nsv4640641
- 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:8,351
- Description:esv3886059 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: 152 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4640641 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 64,318,159 | 64,326,509 |
| nsv4640641 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,949,512 | 62,957,862 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181592 | copy number loss | Curated | Curated |
| nssv16206159 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181592 | Remapped | Perfect | NC_000020.11:g.643 18159_64326509del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 64,318,159 | 64,326,509 |
| nssv16206159 | Remapped | Perfect | NC_000020.11:g.643 18159_64326509dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 64,318,159 | 64,326,509 |
| nssv16181592 | Submitted genomic | NC_000020.10:g.629 49512_62957862del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,949,512 | 62,957,862 | ||
| nssv16206159 | Submitted genomic | NC_000020.10:g.629 49512_62957862dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,949,512 | 62,957,862 |
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) |
|---|---|---|---|
| nssv16181592 | 0.141 | 707 | 5008 |
| nssv16206159 | 0.052 | 262 | 5008 |