nsv3919205
- 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:300,475
- Description:GRCh38/hg38 17q21.32(chr17:47686487-47986961)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: 795 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 795 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919205 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 47,686,487 | 47,986,961 |
| nsv3919205 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,763,853 | 46,064,327 |
| nsv3919205 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 43,118,852 | 43,419,326 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133892 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000134967.4, VCV000145638.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133892 | Submitted genomic | NC_000017.11:g.(?_ 47686487)_(4798696 1_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 47,686,487 | 47,986,961 |
| nssv15133892 | Submitted genomic | NC_000017.10:g.(?_ 45763853)_(4606432 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,763,853 | 46,064,327 |
| nssv15133892 | Submitted genomic | NC_000017.9:g.(?_4 3118852)_(43419326 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 43,118,852 | 43,419,326 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133892 | GRCh37: NC_000017.10:g.(?_45763853)_(46064327_?)del, GRCh38: NC_000017.11:g.(?_47686487)_(47986961_?)del, NCBI36: NC_000017.9:g.(?_43118852)_(43419326_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000134967.4, VCV000145638.2 | 1 |