nsv2787351
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:236,833
- Publication(s):Walker et al. 2017
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7209 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1151 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1046 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1271 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 7210 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1079 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 1322 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1467 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 4445 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2787351 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,537,754 | 32,680,466 |
| nsv2787351 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,863,722 | 3,972,325 |
| nsv2787351 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,838,120 | 4,065,138 |
| nsv2787351 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,827,084 | 4,063,916 |
| nsv2787351 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,505,531 | 32,648,243 |
| nsv2787351 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,869,307 | 3,977,910 |
| nsv2787351 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,837,418 | 4,064,436 |
| nsv2787351 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 3,832,704 | 4,069,536 |
| nsv2787351 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,613,509 | 32,756,221 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv13670008 | copy number loss | CGPQ-1590 | SNP array | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13670008 | Remapped | Pass | NT_167246.2:g.(?_3 827084)_(4063916_? )del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,827,084 | 4,063,916 |
| nssv13670008 | Remapped | Pass | NT_167249.2:g.(?_3 838120)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,838,120 | 4,065,138 |
| nssv13670008 | Remapped | Pass | NT_167247.2:g.(?_3 863722)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,863,722 | 3,972,325 |
| nssv13670008 | Remapped | Perfect | NC_000006.12:g.(?_ 32537754)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,537,754 | 32,680,466 |
| nssv13670008 | Remapped | Pass | NT_167246.1:g.(?_3 832704)_(4069536_? )delNT_167246.1:g. (?_3832704)_(40695 36_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 3,832,704 | 4,069,536 |
| nssv13670008 | Remapped | Pass | NT_167249.1:g.(?_3 837418)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,837,418 | 4,064,436 |
| nssv13670008 | Remapped | Pass | NT_167247.1:g.(?_3 869307)_(3977910_? )delNT_167247.1:g. (?_3869307)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,869,307 | 3,977,910 |
| nssv13670008 | Remapped | Perfect | NC_000006.11:g.(?_ 32505531)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,505,531 | 32,648,243 |
| nssv13670008 | Submitted genomic | NC_000006.10:g.(?_ 32613509)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,613,509 | 32,756,221 |