nsv4894051
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,773
- Publication(s):Abel et al. 2020
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: 410 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4894051 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 136,003,259 (-3, +32) | 136,007,031 (-26, +3) | ||
| nsv4894051 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 135,085,418 (-3, +32) | 135,089,190 (-26, +3) |
| nsv4894051 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 934,402 (-3, +32) | 938,174 (-26, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16590984 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16590984 | Submitted genomic | NC_000023.11:g.(13 6003256_136003291) _(136007005_136007 034)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 136,003,259 (-3, +32) | 136,007,031 (-26, +3) | ||
| nssv16590984 | Remapped | Perfect | NW_004070887.1:g.( 934399_934434)_(93 8148_938177)del | GRCh37.p13 | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 934,402 (-3, +32) | 938,174 (-26, +3) |
| nssv16590984 | Remapped | Perfect | NC_000023.10:g.(13 5085415_135085450) _(135089164_135089 193)del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 135,085,418 (-3, +32) | 135,089,190 (-26, +3) |
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) |
|---|---|---|---|
| nssv16590984 | <0.001 | 2 | 29246 |