nsv3919795
- 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:334,394
- Description:GRCh38/hg38 17q25.1(chr17:75636351-75970744)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: 1131 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1132 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 291 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 |
|---|---|---|---|---|---|---|---|
| nsv3919795 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 75,636,351 | 75,970,744 |
| nsv3919795 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 73,632,431 | 73,966,825 |
| nsv3919795 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 71,144,026 | 71,478,420 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121940 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053453.5, VCV000059610.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121940 | Submitted genomic | NC_000017.11:g.(?_ 75636351)_(7597074 4_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 75,636,351 | 75,970,744 |
| nssv15121940 | Submitted genomic | NC_000017.10:g.(?_ 73632431)_(7396682 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 73,632,431 | 73,966,825 |
| nssv15121940 | Submitted genomic | NC_000017.9:g.(?_7 1144026)_(71478420 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 71,144,026 | 71,478,420 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121940 | GRCh37: NC_000017.10:g.(?_73632431)_(73966825_?)del, GRCh38: NC_000017.11:g.(?_75636351)_(75970744_?)del, NCBI36: NC_000017.9:g.(?_71144026)_(71478420_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000053453.5, VCV000059610.1 | 1 |