nsv3880806
- 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:108,347
- Description:NM_024090.2(ELOVL6):c.-68192_89+40066dup 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: 517 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 517 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3880806 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 110,158,181 | 110,266,527 |
| nsv3880806 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 111,079,337 | 111,187,683 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122386 | duplication | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161355.1, VCV000156929.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122386 | Submitted genomic | NC_000004.12:g.110 158181_110266527du p | GRCh38 (hg38) | NC_000004.12 | Chr4 | 110,158,181 | 110,266,527 |
| nssv15122386 | Submitted genomic | NC_000004.11:g.111 079337_111187683du p | GRCh37 (hg19) | NC_000004.11 | Chr4 | 111,079,337 | 111,187,683 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122386 | GRCh37: NC_000004.11:g.111079337_111187683dup, GRCh38: NC_000004.12:g.110158181_110266527dup | duplication | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161355.1, VCV000156929.1 |