nsv3871349
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:51,668
- Description:Single allele AND Normal pregnancy
- 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: 784 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 784 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3871349 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 97,711,949 | 97,763,616 |
| nsv3871349 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 97,047,653 | 97,099,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122399 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161405.1, VCV000156979.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122399 | Submitted genomic | NC_000005.10:g.977 11949_97763616del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 97,711,949 | 97,763,616 |
| nssv15122399 | Submitted genomic | NC_000005.9:g.9704 7653_97099320del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,653 | 97,099,320 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122399 | GRCh37: NC_000005.9:g.97047653_97099320del, GRCh38: NC_000005.10:g.97711949_97763616del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161405.1, VCV000156979.1 |