nsv5386495
- 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:345
- Description:nsv4938608 from Abel et. al 2020. 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: 110 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5386495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 132,672,261 | 132,672,605 |
| nsv5386495 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 132,007,953 | 132,008,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16880062 | deletion | Curated | Curated |
| nssv16880412 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16880062 | Remapped | Perfect | NC_000005.10:g.132 672261_132672605de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 132,672,261 | 132,672,605 |
| nssv16880412 | Remapped | Perfect | NC_000005.10:g.132 672261_132672605de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 132,672,261 | 132,672,605 |
| nssv16880062 | Submitted genomic | NC_000005.9:g.1320 07953_132008297del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 132,007,953 | 132,008,297 | ||
| nssv16880412 | Submitted genomic | NC_000005.9:g.1320 07953_132008297del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 132,007,953 | 132,008,297 |
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) |
|---|---|---|---|
| nssv16880062 | 0.029 | 162 | 5612 |
| nssv16880412 | 0.03 | 503 | 16834 |