nsv6303132
- 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:4,334
- Description:nsv5474025 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: 661 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 657 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6303132 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,579,398 | 76,583,731 |
| nsv6303132 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 66,233 | 70,566 |
| nsv6303132 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,208,715 | 76,213,048 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17652020 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17652020 | Remapped | Perfect | NT_187561.1:g.6623 3_70566del | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 66,233 | 70,566 |
| nssv17652020 | Remapped | Perfect | NC_000007.14:g.765 79398_76583731del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,579,398 | 76,583,731 |
| nssv17652020 | Submitted genomic | NC_000007.13:g.762 08715_76213048del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,208,715 | 76,213,048 |
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) |
|---|---|---|---|
| nssv17652020 | 0.633 | 3852 | 6084 |