nsv4672820
- 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:27,543
- Description:esv3851668 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 1442 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1253 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1359 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4672820 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,065,507 | 142,093,049 |
| nsv4672820 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,387 | 54,929 |
| nsv4672820 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 141,765,307 | 141,792,849 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16185134 | copy number loss | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16185134 | Remapped | Perfect | NT_187562.1:g.2738 7_54929del | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,387 | 54,929 |
| nssv16185134 | Remapped | Perfect | NC_000007.14:g.142 065507_142093049de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,507 | 142,093,049 |
| nssv16185134 | Submitted genomic | NC_000007.13:g.141 765307_141792849de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,307 | 141,792,849 |
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) |
|---|---|---|---|
| nssv16185134 | 0.114 | 572 | 5008 |