nsv3912524
- 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:145,599
- Description:GRCh38/hg38 10q21.3(chr10:68187812-68333410)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: 626 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 626 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912524 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 68,187,812 | 68,333,410 |
| nsv3912524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 69,947,569 | 70,093,167 |
| nsv3912524 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 69,617,575 | 69,763,173 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138497 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140915.5, VCV000152357.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138497 | Submitted genomic | NC_000010.11:g.(?_ 68187812)_(6833341 0_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 68,187,812 | 68,333,410 |
| nssv15138497 | Submitted genomic | NC_000010.10:g.(?_ 69947569)_(7009316 7_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 69,947,569 | 70,093,167 |
| nssv15138497 | Submitted genomic | NC_000010.9:g.(?_6 9617575)_(69763173 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 69,617,575 | 69,763,173 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138497 | GRCh37: NC_000010.10:g.(?_69947569)_(70093167_?)dup, GRCh38: NC_000010.11:g.(?_68187812)_(68333410_?)dup, NCBI36: NC_000010.9:g.(?_69617575)_(69763173_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000140915.5, VCV000152357.2 | 3 |