nsv3923769
- 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:32,238,583
- Description:GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)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: 82659 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 82198 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 21708 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923769 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 100,194,215 | 132,432,797 |
| nsv3923769 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 101,953,972 | 134,246,301 |
| nsv3923769 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 101,943,962 | 134,096,291 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161290 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053564.7, VCV000059707.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161290 | Submitted genomic | NC_000010.11:g.(?_ 100194215)_(132432 797_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 100,194,215 | 132,432,797 |
| nssv15161290 | Submitted genomic | NC_000010.10:g.(?_ 101953972)_(134246 301_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 101,953,972 | 134,246,301 |
| nssv15161290 | Submitted genomic | NC_000010.9:g.(?_1 01943962)_(1340962 91_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 101,943,962 | 134,096,291 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161290 | GRCh37: NC_000010.10:g.(?_101953972)_(134246301_?)dup, GRCh38: NC_000010.11:g.(?_100194215)_(132432797_?)dup, NCBI36: NC_000010.9:g.(?_101943962)_(134096291_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053564.7, VCV000059707.1 | 3 |