nsv3876319
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:86,300
- Description:
See descriptions for individual calls in download files - Publication(s):Awh et al. 2013, Fritsche et al. 2010, Hughes et al. 2006, Józsi et al. 2007, Zipfel et al. 2007
- ClinVar: RCV000005369.4
- ClinVar: RCV000030867.1
- ClinVar: VCV000005065.1
- HP: 0007868
- MONDO: 0005150
- MedGen: C0242383
- MedGen: C1969906
- OMIM: 134371.0001
- OMIM: 605336.0001
- OMIM: 615489
- OMIM: PS603075
- PubMed: 16998489
- PubMed: 17367211
- PubMed: 18006700
- PubMed: 20843825
- PubMed: 23972322
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1711 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1711 SVs from 105 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|
| nsv3876319 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 196,753,076 | 196,839,375 |
| nsv3876319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 196,722,206 | 196,808,505 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119768 | deletion | Multiple | Multiple | Age-related macular degeneration; MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14; Macular degeneration; Macular degeneration, age-related; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000030867.1, VCV000005065.1 |
| nssv15120130 | deletion | Multiple | Multiple | Hemolytic uremic syndrome, atypical, susceptibility to | risk factor | ClinVar | RCV000005369.4, VCV000005065.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|
| nssv15119768 | Submitted genomic | NC_000001.11:g.(19 6753076_?)_(?_1968 39375)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 196,753,076 | 196,839,375 |
| nssv15120130 | Submitted genomic | NC_000001.11:g.(19 6753076_?)_(?_1968 39375)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 196,753,076 | 196,839,375 |
| nssv15119768 | Submitted genomic | NC_000001.10:g.(19 6722206_?)_(?_1968 08505)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,722,206 | 196,808,505 |
| nssv15120130 | Submitted genomic | NC_000001.10:g.(19 6722206_?)_(?_1968 08505)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,722,206 | 196,808,505 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119768 | GRCh37: NC_000001.10:g.(196722206_?)_(?_196808505)del, GRCh38: NC_000001.11:g.(196753076_?)_(?_196839375)del | deletion | germline | Age-related macular degeneration; MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14; Macular degeneration; Macular degeneration, age-related; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000030867.1, VCV000005065.1 |
| nssv15120130 | GRCh37: NC_000001.10:g.(196722206_?)_(?_196808505)del, GRCh38: NC_000001.11:g.(196753076_?)_(?_196839375)del | deletion | germline | Hemolytic uremic syndrome, atypical, susceptibility to | risk factor | ClinVar | RCV000005369.4, VCV000005065.1 |