nsv6123840
- 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:6,024
- Description:nsv5548741 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: 161 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6123840 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 35,694,180 | 35,700,203 |
| nsv6123840 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187630.1 | Chr22|NT_1 87630.1 | 8,947 | 14,970 |
| nsv6123840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 36,090,227 | 36,096,250 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17960394 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17960394 | Remapped | Perfect | NT_187630.1:g.8947 _14970del | GRCh38.p12 | Second Pass | NT_187630.1 | Chr22|NT_1 87630.1 | 8,947 | 14,970 |
| nssv17960394 | Remapped | Perfect | NC_000022.11:g.356 94180_35700203del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,694,180 | 35,700,203 |
| nssv17960394 | Submitted genomic | NC_000022.10:g.360 90227_36096250del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 36,090,227 | 36,096,250 |
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) |
|---|---|---|---|
| nssv17960394 | 0.075 | 478 | 6404 |