nsv4637193
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:254
- Description:esv3841306 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4931768 from Abel et. al 2020 and nsv5471381 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: 228 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4637193 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 100,158,472 | 100,158,725 |
| nsv4637193 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 99,494,176 | 99,494,429 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16195527 | deletion | Curated | Curated |
| nssv16872140 | deletion | Curated | Curated |
| nssv16874660 | deletion | Curated | Curated |
| nssv17667233 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16195527 | Remapped | Perfect | NC_000005.10:g.100 158472_100158725de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,158,472 | 100,158,725 |
| nssv16872140 | Remapped | Perfect | NC_000005.10:g.100 158472_100158725de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,158,472 | 100,158,725 |
| nssv16874660 | Remapped | Perfect | NC_000005.10:g.100 158472_100158725de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,158,472 | 100,158,725 |
| nssv17667233 | Remapped | Perfect | NC_000005.10:g.100 158472_100158725de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,158,472 | 100,158,725 |
| nssv16195527 | Submitted genomic | NC_000005.9:g.9949 4176_99494429del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,494,176 | 99,494,429 | ||
| nssv16872140 | Submitted genomic | NC_000005.9:g.9949 4176_99494429del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,494,176 | 99,494,429 | ||
| nssv16874660 | Submitted genomic | NC_000005.9:g.9949 4176_99494429del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,494,176 | 99,494,429 | ||
| nssv17667233 | Submitted genomic | NC_000005.9:g.9949 4176_99494429del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,494,176 | 99,494,429 |
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) |
|---|---|---|---|
| nssv16195527 | 0.062 | 312 | 5008 |
| nssv16872140 | 0.09 | 2624 | 29246 |
| nssv16874660 | 0.097 | 1636 | 16834 |
| nssv17667233 | 0.499 | 2173 | 4352 |