nsv3883913
- 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:265,374
- Description:Single allele AND Small for gestational age
- Publication(s):Kasak et al. 2015, Mintz et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1438 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1438 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3883913 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 35,594,620 | 35,859,993 |
| nsv3883913 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 35,819,686 | 36,085,059 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122360 | deletion | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161208.1, VCV000156782.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122360 | Submitted genomic | NC_000002.12:g.355 94620_35859993del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 35,594,620 | 35,859,993 |
| nssv15122360 | Submitted genomic | NC_000002.11:g.358 19686_36085059del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 35,819,686 | 36,085,059 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122360 | GRCh37: NC_000002.11:g.35819686_36085059del, GRCh38: NC_000002.12:g.35594620_35859993del | deletion | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161208.1, VCV000156782.1 |