nsv6126578
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,022
- Description:nsv5528061 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 460 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6126578 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,559,980 | 45,573,000 |
| nsv6126578 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 262,118 | 275,139 |
| nsv6126578 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,637,346 | 43,650,366 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17958019 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17958019 | Remapped | Good | NT_187663.1:g.2621 18_275139del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 262,118 | 275,139 |
| nssv17958019 | Remapped | Perfect | NC_000017.11:g.455 59980_45573000del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,559,980 | 45,573,000 |
| nssv17958019 | Submitted genomic | NC_000017.10:g.436 37346_43650366del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,637,346 | 43,650,366 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17958019 | 0.046 | 293 | 6404 |