nsv3894738
- 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:300
- Description:GRCh37/hg19 16p13.11(chr16:15949951-15950250)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: 417 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 417 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3894738 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,856,094 | 15,856,393 |
nsv3894738 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,514,089 | 1,514,388 |
nsv3894738 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,949,951 | 15,950,250 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15173094 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000751602.2, VCV000614966.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15173094 | Remapped | Perfect | NT_187607.1:g.(?_1 514089)_(1514388_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,514,089 | 1,514,388 |
nssv15173094 | Remapped | Perfect | NC_000016.10:g.(?_ 15856094)_(1585639 3_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,856,094 | 15,856,393 |
nssv15173094 | Submitted genomic | NC_000016.9:g.(?_1 5949951)_(15950250 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,949,951 | 15,950,250 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15173094 | GRCh37: NC_000016.9:g.(?_15949951)_(15950250_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000751602.2, VCV000614966.2 | 1 |