nsv3897846
- 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:38,591
- Description:GRCh37/hg19 16q21(chr16:57475008-57513598)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 110 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3897846 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 57,441,096 | 57,479,686 |
nsv3897846 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 57,475,008 | 57,513,598 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15141503 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000448449.3, VCV000394759.3 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15141503 | Remapped | Perfect | NC_000016.10:g.(?_ 57441096)_(5747968 6_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 57,441,096 | 57,479,686 |
nssv15141503 | Submitted genomic | NC_000016.9:g.(?_5 7475008)_(57513598 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 57,475,008 | 57,513,598 |
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 | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15141503 | GRCh37: NC_000016.9:g.(?_57475008)_(57513598_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000448449.3, VCV000394759.3 | 1 |