nsv3917047
- 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:31,030,603
- Description:GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)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: 85575 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 84787 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 24159 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917047 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 42,685,306 | 73,715,908 |
| nsv3917047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 43,180,754 | 75,475,666 |
| nsv3917047 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 42,500,760 | 75,145,672 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148014 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134848.5, VCV000145481.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148014 | Submitted genomic | NC_000010.11:g.(?_ 42685306)_(7371590 8_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 42,685,306 | 73,715,908 |
| nssv15148014 | Submitted genomic | NC_000010.10:g.(?_ 43180754)_(7547566 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 43,180,754 | 75,475,666 |
| nssv15148014 | Submitted genomic | NC_000010.9:g.(?_4 2500760)_(75145672 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 42,500,760 | 75,145,672 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148014 | GRCh37: NC_000010.10:g.(?_43180754)_(75475666_?)dup, GRCh38: NC_000010.11:g.(?_42685306)_(73715908_?)dup, NCBI36: NC_000010.9:g.(?_42500760)_(75145672_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134848.5, VCV000145481.2 | 3 |