nsv3910934
- 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:297,794
- Description:GRCh38/hg38 7q11.23(chr7:76584731-76882524)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: 1755 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1751 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910934 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 76,584,731 | 76,882,524 |
| nsv3910934 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,214,048 | 76,511,841 |
| nsv3910934 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 76,051,984 | 76,349,777 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135504 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000138408.4, VCV000149381.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135504 | Submitted genomic | NC_000007.14:g.(?_ 76584731)_(7688252 4_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 76,584,731 | 76,882,524 |
| nssv15135504 | Submitted genomic | NC_000007.13:g.(?_ 76214048)_(7651184 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,214,048 | 76,511,841 |
| nssv15135504 | Submitted genomic | NC_000007.12:g.(?_ 76051984)_(7634977 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,051,984 | 76,349,777 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135504 | GRCh37: NC_000007.13:g.(?_76214048)_(76511841_?)dup, GRCh38: NC_000007.14:g.(?_76584731)_(76882524_?)dup, NCBI36: NC_000007.12:g.(?_76051984)_(76349777_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000138408.4, VCV000149381.2 | 3 |