nsv3909973
- 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:4,995,432
- Description:GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)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: 9884 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 9837 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2271 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3909973 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 88,197,732 | 93,193,163 |
| nsv3909973 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 87,493,549 | 92,528,869 |
| nsv3909973 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 87,529,305 | 92,554,625 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135062 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136732.5, VCV000147564.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135062 | Submitted genomic | NC_000005.10:g.(?_ 88197732)_(9319316 3_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 88,197,732 | 93,193,163 |
| nssv15135062 | Submitted genomic | NC_000005.9:g.(?_8 7493549)_(92528869 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 87,493,549 | 92,528,869 |
| nssv15135062 | Submitted genomic | NC_000005.8:g.(?_8 7529305)_(92554625 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 87,529,305 | 92,554,625 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135062 | GRCh37: NC_000005.9:g.(?_87493549)_(92528869_?)dup, GRCh38: NC_000005.10:g.(?_88197732)_(93193163_?)dup, NCBI36: NC_000005.8:g.(?_87529305)_(92554625_?)dup | copy number gain | tested-inconclusive | See cases | Pathogenic | ClinVar | RCV000136732.5, VCV000147564.2 | 3 |