nsv3916007
- 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:8,231,667
- Description:GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)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: 24868 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 24866 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 6515 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916007 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 29,671,324 | 37,902,990 |
| nsv3916007 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 30,162,231 | 38,393,630 |
| nsv3916007 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 34,854,071 | 43,085,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136228 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136794.5, VCV000147631.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136228 | Submitted genomic | NC_000019.10:g.(?_ 29671324)_(3790299 0_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 29,671,324 | 37,902,990 |
| nssv15136228 | Submitted genomic | NC_000019.9:g.(?_3 0162231)_(38393630 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 30,162,231 | 38,393,630 |
| nssv15136228 | Submitted genomic | NC_000019.8:g.(?_3 4854071)_(43085470 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 34,854,071 | 43,085,470 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136228 | GRCh37: NC_000019.9:g.(?_30162231)_(38393630_?)del, GRCh38: NC_000019.10:g.(?_29671324)_(37902990_?)del, NCBI36: NC_000019.8:g.(?_34854071)_(43085470_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136794.5, VCV000147631.2 | 1 |