nsv6137707
- 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:656,300
- Description:GRCh37/hg19 16p11.2(chr16:29565626-30221925)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: 2210 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2210 SVs from 93 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6137707 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 29,554,305 | 30,210,604 |
nsv6137707 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,565,626 | 30,221,925 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv17683463 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001564036.1, VCV001199403.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17683463 | Remapped | Perfect | NC_000016.10:g.(29 554305_?)_(?_30210 604)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,554,305 | 30,210,604 |
nssv17683463 | Submitted genomic | NC_000016.9:g.(295 65626_?)_(?_302219 25)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,565,626 | 30,221,925 |
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 |
---|---|---|---|---|---|---|---|---|
nssv17683463 | GRCh37: NC_000016.9:g.(29565626_?)_(?_30221925)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV001564036.1, VCV001199403.1 | 1 |