nsv4635514
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:454
- Description:esv3889108 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4518252 from gnomAD Structural Variants and nsv4908367 from Abel et. al 2020 and nsv5418725 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 251 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 251 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4635514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 65,894,120 | 65,894,573 |
| nsv4635514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 65,113,962 | 65,114,415 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16178150 | deletion | Curated | Curated |
| nssv16200793 | deletion | Curated | Curated |
| nssv16876456 | deletion | Curated | Curated |
| nssv16885167 | deletion | Curated | Curated |
| nssv17960950 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16178150 | Remapped | Perfect | NC_000023.11:g.658 94120_65894573del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 65,894,120 | 65,894,573 |
| nssv16200793 | Remapped | Perfect | NC_000023.11:g.658 94120_65894573del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 65,894,120 | 65,894,573 |
| nssv16876456 | Remapped | Perfect | NC_000023.11:g.658 94120_65894573del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 65,894,120 | 65,894,573 |
| nssv16885167 | Remapped | Perfect | NC_000023.11:g.658 94120_65894573del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 65,894,120 | 65,894,573 |
| nssv17960950 | Remapped | Perfect | NC_000023.11:g.658 94120_65894573del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 65,894,120 | 65,894,573 |
| nssv16178150 | Submitted genomic | NC_000023.10:g.651 13962_65114415del | GRCh37 (hg19) | NC_000023.10 | ChrX | 65,113,962 | 65,114,415 | ||
| nssv16200793 | Submitted genomic | NC_000023.10:g.651 13962_65114415del | GRCh37 (hg19) | NC_000023.10 | ChrX | 65,113,962 | 65,114,415 | ||
| nssv16876456 | Submitted genomic | NC_000023.10:g.651 13962_65114415del | GRCh37 (hg19) | NC_000023.10 | ChrX | 65,113,962 | 65,114,415 | ||
| nssv16885167 | Submitted genomic | NC_000023.10:g.651 13962_65114415del | GRCh37 (hg19) | NC_000023.10 | ChrX | 65,113,962 | 65,114,415 | ||
| nssv17960950 | Submitted genomic | NC_000023.10:g.651 13962_65114415del | GRCh37 (hg19) | NC_000023.10 | ChrX | 65,113,962 | 65,114,415 |
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) |
|---|---|---|---|
| nssv16178150 | 0.09 | 1452 | 16082 |
| nssv16200793 | 0.369 | 1392 | 3775 |
| nssv16876456 | 0.088 | 2573 | 29246 |
| nssv16885167 | 0.1 | 1685 | 16834 |
| nssv17960950 | 0.059 | 380 | 6404 |