nsv4716437
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:73,719
- Description:NC_000016.10:g.(89742939_89744958)_(89816657_?
)del AND Fanconi anemia complementation group A - Publication(s):Alter et al. 2002, Scott et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 595 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 595 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|---|
nsv4716437 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 89,742,939 | 89,744,958 | 89,816,657 |
nsv4716437 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 89,809,347 | 89,811,366 | 89,883,065 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16252242 | deletion | Multiple | Multiple | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A | Pathogenic | ClinVar | RCV001256432.1, VCV000974181.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|---|
nssv16252242 | Remapped | Perfect | NC_000016.10:g.(89 742939_89744958)_( 89816657_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,742,939 | 89,744,958 | 89,816,657 |
nssv16252242 | Submitted genomic | NC_000016.9:g.(898 09347_89811366)_(8 9883065_?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,809,347 | 89,811,366 | 89,883,065 |
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 |
---|---|---|---|---|---|---|---|
nssv16252242 | GRCh37: NC_000016.9:g.(89809347_89811366)_(89883065_?)del | deletion | germline | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A | Pathogenic | ClinVar | RCV001256432.1, VCV000974181.1 |