nsv5200364
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:43,314,820
- Description:GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) AND Abnormal fetal cardiovascular morphology
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 145215 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 144857 SVs from 147 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200364 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 226,814 | 43,541,633 |
| nsv5200364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 176,814 | 43,396,776 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16736635 | copy number gain | Multiple | Multiple | Abnormal fetal cardiovascular morphology; Abnormality of the fetal cardiovascular system | Pathogenic | ClinVar | RCV001291977.1, VCV000997076.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736635 | Remapped | Good | NC_000008.11:g.(?_ 226814)_(43541633_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 226,814 | 43,541,633 |
| nssv16736635 | Submitted genomic | NC_000008.10:g.(?_ 176814)_(43396776_ ?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 176,814 | 43,396,776 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16736635 | GRCh37: NC_000008.10:g.(?_176814)_(43396776_?)dup | copy number gain | de novo | Abnormal fetal cardiovascular morphology; Abnormality of the fetal cardiovascular system | Pathogenic | ClinVar | RCV001291977.1, VCV000997076.1 |