nsv3918978
- 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:79,227
- Description:GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3 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: 244 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918978 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 66,945,487 | 67,024,713 |
| nsv3918978 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 66,979,390 | 67,058,616 |
| nsv3918978 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 65,536,891 | 65,616,117 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122261 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141311.3, VCV000152800.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122261 | Submitted genomic | NC_000016.10:g.(?_ 66945487)_(6702471 3_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 66,945,487 | 67,024,713 |
| nssv15122261 | Submitted genomic | NC_000016.9:g.(?_6 6979390)_(67058616 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 66,979,390 | 67,058,616 |
| nssv15122261 | Submitted genomic | NC_000016.8:g.(?_6 5536891)_(65616117 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 65,536,891 | 65,616,117 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122261 | GRCh37: NC_000016.9:g.(?_66979390)_(67058616_?)dup, GRCh38: NC_000016.10:g.(?_66945487)_(67024713_?)dup, NCBI36: NC_000016.8:g.(?_65536891)_(65616117_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141311.3, VCV000152800.1 | 3 |