nsv3910645
- 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:173,847
- Description:GRCh38/hg38 19q13.43(chr19:58407283-58581129)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: 917 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 917 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 138 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 |
|---|---|---|---|---|---|---|---|
| nsv3910645 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 58,407,283 | 58,581,129 |
| nsv3910645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 58,918,650 | 59,092,496 |
| nsv3910645 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 63,610,462 | 63,784,308 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121732 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000135198.3, VCV000145872.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121732 | Submitted genomic | NC_000019.10:g.(?_ 58407283)_(5858112 9_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 58,407,283 | 58,581,129 |
| nssv15121732 | Submitted genomic | NC_000019.9:g.(?_5 8918650)_(59092496 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 58,918,650 | 59,092,496 |
| nssv15121732 | Submitted genomic | NC_000019.8:g.(?_6 3610462)_(63784308 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 63,610,462 | 63,784,308 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121732 | GRCh37: NC_000019.9:g.(?_58918650)_(59092496_?)del, GRCh38: NC_000019.10:g.(?_58407283)_(58581129_?)del, NCBI36: NC_000019.8:g.(?_63610462)_(63784308_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000135198.3, VCV000145872.1 | 1 |