nsv3883540
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:77,730
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 612 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 612 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3883540 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 16,090,726 | 16,168,455 |
| nsv3883540 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 15,948,235 | 16,025,964 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123122 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161527.1, VCV000157101.1 |
| nssv15123123 | deletion | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161528.1, VCV000157101.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123122 | Submitted genomic | NC_000008.11:g.160 90726_16168455del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 16,090,726 | 16,168,455 |
| nssv15123123 | Submitted genomic | NC_000008.11:g.160 90726_16168455del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 16,090,726 | 16,168,455 |
| nssv15123122 | Submitted genomic | NC_000008.10:g.159 48235_16025964del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,948,235 | 16,025,964 |
| nssv15123123 | Submitted genomic | NC_000008.10:g.159 48235_16025964del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,948,235 | 16,025,964 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123122 | GRCh37: NC_000008.10:g.15948235_16025964del, GRCh38: NC_000008.11:g.16090726_16168455del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161527.1, VCV000157101.1 |
| nssv15123123 | GRCh37: NC_000008.10:g.15948235_16025964del, GRCh38: NC_000008.11:g.16090726_16168455del | deletion | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161528.1, VCV000157101.1 |