nsv3888290
- 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:65,653
- 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: 460 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3888290 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 51,118,336 | 51,183,988 |
| nsv3888290 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,345,474 | 51,411,126 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122361 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161212.1, VCV000156786.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122361 | Submitted genomic | NC_000002.12:g.511 18336_51183988del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 51,118,336 | 51,183,988 |
| nssv15122361 | Submitted genomic | NC_000002.11:g.513 45474_51411126del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,345,474 | 51,411,126 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122361 | GRCh37: NC_000002.11:g.51345474_51411126del, GRCh38: NC_000002.12:g.51118336_51183988del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161212.1, VCV000156786.1 |