nsv3923613
- 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:5,968,772
- Description:GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 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: 29311 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 27208 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 7276 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923613 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 52,612,432 | 58,581,203 |
| nsv3923613 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 53,115,685 | 59,092,570 |
| nsv3923613 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 57,807,497 | 63,784,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147992 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134174.4, VCV000144762.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147992 | Submitted genomic | NC_000019.10:g.(?_ 52612432)_(5858120 3_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 52,612,432 | 58,581,203 |
| nssv15147992 | Submitted genomic | NC_000019.9:g.(?_5 3115685)_(59092570 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,115,685 | 59,092,570 |
| nssv15147992 | Submitted genomic | NC_000019.8:g.(?_5 7807497)_(63784382 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,807,497 | 63,784,382 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147992 | GRCh37: NC_000019.9:g.(?_53115685)_(59092570_?)dup, GRCh38: NC_000019.10:g.(?_52612432)_(58581203_?)dup, NCBI36: NC_000019.8:g.(?_57807497)_(63784382_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134174.4, VCV000144762.2 | 3 |