nsv4346184
- 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:58,638
- Description:
NG_011706.1:g.13291_71928del AND Fanconi anemia - Publication(s):ACOG Committee on Genetics et al. 2009, Alter et al. 2002, Gross et al. 2008, No authors et al. 2021, No authors et al. 2021, No authors 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: 459 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4346184 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 89,749,731 | 89,808,368 |
| nsv4346184 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 89,816,138 | 89,874,775 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606949 | deletion | Multiple | Multiple | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV000779595.1, VCV000632555.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15606949 | Submitted genomic | NC_000016.10:g.897 49731_89808368del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 89,749,731 | 89,808,368 |
| nssv15606949 | Submitted genomic | NC_000016.9:g.8981 6138_89874775del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,816,138 | 89,874,775 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606949 | GRCh37: NC_000016.9:g.89816138_89874775del, GRCh38: NC_000016.10:g.89749731_89808368del | deletion | germline | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV000779595.1, VCV000632555.1 |