nsv3920442
- 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:81,752
- Description:GRCh38/hg38 10q26.3(chr10:133538858-133620609)x3 AND See cases
- ClinVar: RCV000142475.4
- ClinVar: VCV000154408.2
- dbVar: nssv1601313
- dbVar: nssv1601365
- dbVar: nssv1601414
- dbVar: nssv1601603
- dbVar: nssv1601681
- dbVar: nssv1601701
- dbVar: nssv1601861
- dbVar: nssv1601917
- dbVar: nssv1602053
- dbVar: nssv1602150
- dbVar: nssv1602255
- dbVar: nssv1602529
- dbVar: nssv1602806
- dbVar: nssv1602817
- dbVar: nssv1603044
- dbVar: nssv1603456
- dbVar: nssv1603474
- dbVar: nssv1603574
- dbVar: nssv1603580
- dbVar: nssv1603948
- dbVar: nssv1604198
- dbVar: nssv1604292
- dbVar: nssv1604428
- dbVar: nssv1604561
- dbVar: nssv1604828
- dbVar: nssv583854
- dbVar: nssv583916
- dbVar: nssv583950
- dbVar: nssv583990
- dbVar: nssv584020
- dbVar: nssv584037
- dbVar: nssv584150
- dbVar: nssv584168
- dbVar: nssv584199
- dbVar: nssv584275
- dbVar: nssv706726
- dbVar: nssv706860
- dbVar: nssv706868
- dbVar: nssv707018
- dbVar: nsv497823
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1419 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1419 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 659 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920442 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 133,538,858 | 133,620,609 |
| nsv3920442 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 135,352,362 | 135,434,113 |
| nsv3920442 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 135,202,352 | 135,284,103 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137779 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142475.4, VCV000154408.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137779 | Submitted genomic | NC_000010.11:g.(?_ 133538858)_(133620 609_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 133,538,858 | 133,620,609 |
| nssv15137779 | Submitted genomic | NC_000010.10:g.(?_ 135352362)_(135434 113_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,352,362 | 135,434,113 |
| nssv15137779 | Submitted genomic | NC_000010.9:g.(?_1 35202352)_(1352841 03_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,202,352 | 135,284,103 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137779 | GRCh37: NC_000010.10:g.(?_135352362)_(135434113_?)dup, GRCh38: NC_000010.11:g.(?_133538858)_(133620609_?)dup, NCBI36: NC_000010.9:g.(?_135202352)_(135284103_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000142475.4, VCV000154408.2 | 3 |