nsv3918405
- 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:1,227,136
- Description:GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)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: 2754 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2754 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 503 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918405 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 66,245,888 | 67,473,023 |
| nsv3918405 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 66,279,791 | 67,506,926 |
| nsv3918405 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 64,837,292 | 66,064,427 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134077 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134709.4, VCV000145310.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134077 | Submitted genomic | NC_000016.10:g.(?_ 66245888)_(6747302 3_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 66,245,888 | 67,473,023 |
| nssv15134077 | Submitted genomic | NC_000016.9:g.(?_6 6279791)_(67506926 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 66,279,791 | 67,506,926 |
| nssv15134077 | Submitted genomic | NC_000016.8:g.(?_6 4837292)_(66064427 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 64,837,292 | 66,064,427 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134077 | GRCh37: NC_000016.9:g.(?_66279791)_(67506926_?)del, GRCh38: NC_000016.10:g.(?_66245888)_(67473023_?)del, NCBI36: NC_000016.8:g.(?_64837292)_(66064427_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134709.4, VCV000145310.2 | 1 |