nsv3917667
- 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:26,249,774
- Description:GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)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: 80712 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 80220 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 20644 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917667 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 90,205 | 26,339,978 |
| nsv3917667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 224,406 | 26,628,907 |
| nsv3917667 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 126,145 | 26,668,913 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161790 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138428.6, VCV000149407.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161790 | Submitted genomic | NC_000010.11:g.(?_ 90205)_(26339978_? )dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 90,205 | 26,339,978 |
| nssv15161790 | Submitted genomic | NC_000010.10:g.(?_ 224406)_(26628907_ ?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 224,406 | 26,628,907 |
| nssv15161790 | Submitted genomic | NC_000010.9:g.(?_1 26145)_(26668913_? )dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 126,145 | 26,668,913 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161790 | GRCh37: NC_000010.10:g.(?_224406)_(26628907_?)dup, GRCh38: NC_000010.11:g.(?_90205)_(26339978_?)dup, NCBI36: NC_000010.9:g.(?_126145)_(26668913_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138428.6, VCV000149407.2 | 3 |