nsv3921516
- 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:1,935,689
- Description:GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)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: 4017 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 4018 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1122 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921516 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 60,977,777 | 62,913,465 |
| nsv3921516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 62,737,535 | 64,673,225 |
| nsv3921516 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 62,407,541 | 64,343,231 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139864 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143288.4, VCV000155221.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139864 | Submitted genomic | NC_000010.11:g.(?_ 60977777)_(6291346 5_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 60,977,777 | 62,913,465 |
| nssv15139864 | Submitted genomic | NC_000010.10:g.(?_ 62737535)_(6467322 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 62,737,535 | 64,673,225 |
| nssv15139864 | Submitted genomic | NC_000010.9:g.(?_6 2407541)_(64343231 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 62,407,541 | 64,343,231 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139864 | GRCh37: NC_000010.10:g.(?_62737535)_(64673225_?)dup, GRCh38: NC_000010.11:g.(?_60977777)_(62913465_?)dup, NCBI36: NC_000010.9:g.(?_62407541)_(64343231_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143288.4, VCV000155221.2 | 3 |