nsv3924720
- 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:13,905,784
- Description:GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)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: 46343 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 45873 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 11978 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 |
|---|---|---|---|---|---|---|---|
| nsv3924720 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 119,707,856 | 133,613,639 |
| nsv3924720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 121,467,368 | 135,427,143 |
| nsv3924720 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 121,457,358 | 135,277,133 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146003 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142005.6, VCV000153718.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146003 | Submitted genomic | NC_000010.11:g.(?_ 119707856)_(133613 639_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 119,707,856 | 133,613,639 |
| nssv15146003 | Submitted genomic | NC_000010.10:g.(?_ 121467368)_(135427 143_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 121,467,368 | 135,427,143 |
| nssv15146003 | Submitted genomic | NC_000010.9:g.(?_1 21457358)_(1352771 33_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 121,457,358 | 135,277,133 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146003 | GRCh37: NC_000010.10:g.(?_121467368)_(135427143_?)dup, GRCh38: NC_000010.11:g.(?_119707856)_(133613639_?)dup, NCBI36: NC_000010.9:g.(?_121457358)_(135277133_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142005.6, VCV000153718.2 | 3 |