nsv3916321
- 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:16,252,602
- Description:GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)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: 42687 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 42687 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 10630 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916321 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 58,456,122 | 74,708,723 |
| nsv3916321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 58,490,026 | 74,742,621 |
| nsv3916321 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 57,047,527 | 73,300,122 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147082 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052408.5, VCV000058632.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147082 | Submitted genomic | NC_000016.10:g.(?_ 58456122)_(7470872 3_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 58,456,122 | 74,708,723 |
| nssv15147082 | Submitted genomic | NC_000016.9:g.(?_5 8490026)_(74742621 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 58,490,026 | 74,742,621 |
| nssv15147082 | Submitted genomic | NC_000016.8:g.(?_5 7047527)_(73300122 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 57,047,527 | 73,300,122 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147082 | GRCh37: NC_000016.9:g.(?_58490026)_(74742621_?)dup, GRCh38: NC_000016.10:g.(?_58456122)_(74708723_?)dup, NCBI36: NC_000016.8:g.(?_57047527)_(73300122_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052408.5, VCV000058632.1 | 3 |