nsv3907590
- 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:8,893
- Description:GRCh37/hg19 16q12.2(chr16:55842404-55851296)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 335 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3907590 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,808,492 | 55,817,384 |
nsv3907590 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,842,404 | 55,851,296 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15158889 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000739157.2, VCV000602521.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15158889 | Remapped | Perfect | NC_000016.10:g.(?_ 55808492)_(5581738 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,808,492 | 55,817,384 |
nssv15158889 | Submitted genomic | NC_000016.9:g.(?_5 5842404)_(55851296 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,842,404 | 55,851,296 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15158889 | GRCh37: NC_000016.9:g.(?_55842404)_(55851296_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000739157.2, VCV000602521.2 | 1 |