nsv6315094
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:444
- Description:NG_011725.1:g.7643_8086delinsTTATTAATTAATTAACT
AAAATTAAATTATTTAGTTAATTTAATTAACTAAACT AND Age related macular degeneration 8 - Publication(s):Awh et al. 2013, Fritsche et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 119 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6315094 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 122,457,305 | 122,457,748 |
| nsv6315094 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 124,216,821 | 124,217,264 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976526 | delins | Multiple | Multiple | Age related macular degeneration 8; MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8 | risk factor | ClinVar | RCV000001031.2, VCV000000980.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17976526 | Submitted genomic | NC_000010.11:g.122 457305_122457748de lins54 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 122,457,305 | 122,457,748 |
| nssv17976526 | Submitted genomic | NC_000010.10:g.124 216821_124217264de lins54 | GRCh37 (hg19) | NC_000010.10 | Chr10 | 124,216,821 | 124,217,264 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976526 | GRCh37: NC_000010.10:g.124216821_124217264delins54, GRCh38: NC_000010.11:g.122457305_122457748delins54 | delins | germline | Age related macular degeneration 8; MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8 | risk factor | ClinVar | RCV000001031.2, VCV000000980.1 |