nsv3919609
- 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:1,191,500
- Description:GRCh38/hg38 17q21.31(chr17:43570878-44762377)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: 3811 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 3811 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 979 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919609 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 43,570,878 | 44,762,377 |
| nsv3919609 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,648,246 | 42,839,745 |
| nsv3919609 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 39,003,772 | 40,195,271 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119910 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053429.5, VCV000059586.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119910 | Submitted genomic | NC_000017.11:g.(?_ 43570878)_(4476237 7_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 43,570,878 | 44,762,377 |
| nssv15119910 | Submitted genomic | NC_000017.10:g.(?_ 41648246)_(4283974 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,648,246 | 42,839,745 |
| nssv15119910 | Submitted genomic | NC_000017.9:g.(?_3 9003772)_(40195271 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 39,003,772 | 40,195,271 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119910 | GRCh37: NC_000017.10:g.(?_41648246)_(42839745_?)del, GRCh38: NC_000017.11:g.(?_43570878)_(44762377_?)del, NCBI36: NC_000017.9:g.(?_39003772)_(40195271_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053429.5, VCV000059586.1 | 1 |