nsv3911005
- 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:1,261,590
- Description:GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)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: 3560 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3560 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 938 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911005 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 99,386,632 | 100,648,221 |
| nsv3911005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 101,146,389 | 102,407,978 |
| nsv3911005 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 101,136,379 | 102,397,968 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148056 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000135650.5, VCV000146346.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148056 | Submitted genomic | NC_000010.11:g.(?_ 99386632)_(1006482 21_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 99,386,632 | 100,648,221 |
| nssv15148056 | Submitted genomic | NC_000010.10:g.(?_ 101146389)_(102407 978_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 101,146,389 | 102,407,978 |
| nssv15148056 | Submitted genomic | NC_000010.9:g.(?_1 01136379)_(1023979 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 101,136,379 | 102,397,968 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148056 | GRCh37: NC_000010.10:g.(?_101146389)_(102407978_?)dup, GRCh38: NC_000010.11:g.(?_99386632)_(100648221_?)dup, NCBI36: NC_000010.9:g.(?_101136379)_(102397968_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000135650.5, VCV000146346.2 | 3 |