nsv4671497
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,421
- Description:esv3883889 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: 1788 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1788 SVs from 89 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4671497 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 42,943,871 | 42,986,291 |
| nsv4671497 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,448,023 | 43,490,443 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16198311 | copy number loss | Curated | Curated |
| nssv16206059 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16198311 | Remapped | Perfect | NC_000019.10:g.429 43871_42986291del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,943,871 | 42,986,291 |
| nssv16206059 | Remapped | Perfect | NC_000019.10:g.429 43871_42986291dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,943,871 | 42,986,291 |
| nssv16198311 | Submitted genomic | NC_000019.9:g.4344 8023_43490443del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,448,023 | 43,490,443 | ||
| nssv16206059 | Submitted genomic | NC_000019.9:g.4344 8023_43490443dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,448,023 | 43,490,443 |
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) |
|---|---|---|---|
| nssv16198311 | 0.027 | 134 | 5008 |
| nssv16206059 | 0.014 | 68 | 5008 |