nsv3912242
- 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:1,492,559
- Description:GRCh38/hg38 19p13.2(chr19:9735443-11228001)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: 5148 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 5148 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 929 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912242 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 9,735,443 | 11,228,001 |
| nsv3912242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 9,846,119 | 11,338,677 |
| nsv3912242 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 9,707,119 | 11,199,677 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133905 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135403.4, VCV000146077.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133905 | Submitted genomic | NC_000019.10:g.(?_ 9735443)_(11228001 _?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 9,735,443 | 11,228,001 |
| nssv15133905 | Submitted genomic | NC_000019.9:g.(?_9 846119)_(11338677_ ?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 9,846,119 | 11,338,677 |
| nssv15133905 | Submitted genomic | NC_000019.8:g.(?_9 707119)_(11199677_ ?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 9,707,119 | 11,199,677 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133905 | GRCh37: NC_000019.9:g.(?_9846119)_(11338677_?)del, GRCh38: NC_000019.10:g.(?_9735443)_(11228001_?)del, NCBI36: NC_000019.8:g.(?_9707119)_(11199677_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135403.4, VCV000146077.2 | 1 |