nsv6315530
- 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:80,249,271
- Description:
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) AND Trisomy 18 - Publication(s):Dondorp et al. 2015, Gregg et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 214456 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 214209 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315530 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 10,001 | 80,259,271 |
| nsv6315530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 1 | 78,077,248 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976993 | copy number gain | Multiple | Multiple | Trisomy 18 | Pathogenic | ClinVar | RCV002280660.1, VCV001703574.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976993 | Remapped | Good | NC_000018.10:g.(?_ 10001)_(80259271_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 10,001 | 80,259,271 |
| nssv17976993 | Submitted genomic | NC_000018.9:g.(?_1 )_(78077248_?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 1 | 78,077,248 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976993 | GRCh37: NC_000018.9:g.(?_1)_(78077248_?)dup | copy number gain | see ClinVar for details | Trisomy 18 | Pathogenic | ClinVar | RCV002280660.1, VCV001703574.1 |