nsv3917504
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,805,273
- Description:GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)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: 20699 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 20699 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 5511 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917504 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 69,918,076 | 76,723,348 |
| nsv3917504 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 69,951,979 | 76,757,245 |
| nsv3917504 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 68,509,480 | 75,314,746 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146519 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053356.5, VCV000059514.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146519 | Submitted genomic | NC_000016.10:g.(?_ 69918076)_(7672334 8_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 69,918,076 | 76,723,348 |
| nssv15146519 | Submitted genomic | NC_000016.9:g.(?_6 9951979)_(76757245 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 69,951,979 | 76,757,245 |
| nssv15146519 | Submitted genomic | NC_000016.8:g.(?_6 8509480)_(75314746 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,509,480 | 75,314,746 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146519 | GRCh37: NC_000016.9:g.(?_69951979)_(76757245_?)del, GRCh38: NC_000016.10:g.(?_69918076)_(76723348_?)del, NCBI36: NC_000016.8:g.(?_68509480)_(75314746_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053356.5, VCV000059514.1 | 1 |