nsv3923974
- 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:12,742,060
- Description:GRCh38/hg38 10p15.3-13(chr10:73856-12815915)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: 45191 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 45133 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 11148 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923974 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 73,856 | 12,815,915 |
| nsv3923974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 119,796 | 12,857,914 |
| nsv3923974 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 109,796 | 12,897,920 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134144 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135340.5, VCV000146014.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134144 | Submitted genomic | NC_000010.11:g.(?_ 73856)_(12815915_? )dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 73,856 | 12,815,915 |
| nssv15134144 | Submitted genomic | NC_000010.10:g.(?_ 119796)_(12857914_ ?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 119,796 | 12,857,914 |
| nssv15134144 | Submitted genomic | NC_000010.9:g.(?_1 09796)_(12897920_? )dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 109,796 | 12,897,920 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134144 | GRCh37: NC_000010.10:g.(?_119796)_(12857914_?)dup, GRCh38: NC_000010.11:g.(?_73856)_(12815915_?)dup, NCBI36: NC_000010.9:g.(?_109796)_(12897920_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135340.5, VCV000146014.1 | 3 |