nsv3873998
- 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:39,071
- Description:NM_001104554.1(PAQR5):c.*88_*39158dup AND Large for gestational age
- 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: 129 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3873998 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 69,403,910 | 69,442,980 |
| nsv3873998 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 69,696,249 | 69,735,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15148347 | duplication | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161776.1, VCV000157350.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15148347 | Submitted genomic | NC_000015.10:g.694 03910_69442980dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 69,403,910 | 69,442,980 |
| nssv15148347 | Submitted genomic | NC_000015.9:g.6969 6249_69735319dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 69,696,249 | 69,735,319 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15148347 | GRCh37: NC_000015.9:g.69696249_69735319dup, GRCh38: NC_000015.10:g.69403910_69442980dup | duplication | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161776.1, VCV000157350.1 |