nsv5393394
- 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:140,837
- Description:nsv4855364 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: 4304 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3135 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 3380 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393394 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 105,864,259 | 106,005,095 |
| nsv5393394 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 332,028 | 472,864 |
| nsv5393394 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,330,469 | 106,471,244 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16870346 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16870346 | Remapped | Good | NT_187600.1:g.3320 28_472864del | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 332,028 | 472,864 |
| nssv16870346 | Remapped | Good | NC_000014.9:g.1058 64259_106005095del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 105,864,259 | 106,005,095 |
| nssv16870346 | Submitted genomic | NC_000014.8:g.1063 30469_106471244del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,330,469 | 106,471,244 |
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) |
|---|---|---|---|
| nssv16870346 | 0.018 | 300 | 16814 |