nsv3918386
- 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:622
- Description:GRCh38/hg38 7q35(chr7:143455851-143456472)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: 92 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918386 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 143,455,851 | 143,456,472 |
| nsv3918386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,152,944 | 143,153,565 |
| nsv3918386 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 142,863,066 | 142,863,687 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134848 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136817.4, VCV000147655.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134848 | Submitted genomic | NC_000007.14:g.(?_ 143455851)_(143456 472_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 143,455,851 | 143,456,472 |
| nssv15134848 | Submitted genomic | NC_000007.13:g.(?_ 143152944)_(143153 565_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,152,944 | 143,153,565 |
| nssv15134848 | Submitted genomic | NC_000007.12:g.(?_ 142863066)_(142863 687_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 142,863,066 | 142,863,687 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134848 | GRCh37: NC_000007.13:g.(?_143152944)_(143153565_?)dup, GRCh38: NC_000007.14:g.(?_143455851)_(143456472_?)dup, NCBI36: NC_000007.12:g.(?_142863066)_(142863687_?)dup | copy number gain | tested-inconclusive | See cases | Benign | ClinVar | RCV000136817.4, VCV000147655.2 | 3 |