nsv6301155
- 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:80
- Description:nsv5505801 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: 95 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6301155 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,259,543 | 56,259,622 |
| nsv6301155 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 70,292 | 70,371 |
| nsv6301155 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 56,027,019 | 56,027,098 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17656604 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17656604 | Remapped | Perfect | NW_003871073.1:g.7 0292_70371del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 70,292 | 70,371 |
| nssv17656604 | Remapped | Perfect | NC_000011.10:g.562 59543_56259622del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,259,543 | 56,259,622 |
| nssv17656604 | Submitted genomic | NC_000011.9:g.5602 7019_56027098del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 56,027,019 | 56,027,098 |
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) |
|---|---|---|---|
| nssv17656604 | 0.085 | 545 | 6404 |