nsv3922535
- 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:1,152,228
- Description:GRCh38/hg38 7q22.1(chr7:99195836-100348063)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: 3057 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3057 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 658 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922535 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 99,195,836 | 100,348,063 |
| nsv3922535 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 98,793,459 | 99,945,686 |
| nsv3922535 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 98,631,395 | 99,783,622 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134188 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000135630.4, VCV000146325.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134188 | Submitted genomic | NC_000007.14:g.(?_ 99195836)_(1003480 63_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 99,195,836 | 100,348,063 |
| nssv15134188 | Submitted genomic | NC_000007.13:g.(?_ 98793459)_(9994568 6_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 98,793,459 | 99,945,686 |
| nssv15134188 | Submitted genomic | NC_000007.12:g.(?_ 98631395)_(9978362 2_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 98,631,395 | 99,783,622 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134188 | GRCh37: NC_000007.13:g.(?_98793459)_(99945686_?)dup, GRCh38: NC_000007.14:g.(?_99195836)_(100348063_?)dup, NCBI36: NC_000007.12:g.(?_98631395)_(99783622_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000135630.4, VCV000146325.2 | 3 |