nsv3923694
- 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:393,149
- Description:GRCh38/hg38 7q31.32(chr7:122651517-123044665)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: 994 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 994 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 234 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 |
|---|---|---|---|---|---|---|---|
| nsv3923694 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 122,651,517 | 123,044,665 |
| nsv3923694 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 122,291,571 | 122,684,719 |
| nsv3923694 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 122,078,807 | 122,471,955 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119916 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000053505.4, VCV000059655.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119916 | Submitted genomic | NC_000007.14:g.(?_ 122651517)_(123044 665_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 122,651,517 | 123,044,665 |
| nssv15119916 | Submitted genomic | NC_000007.13:g.(?_ 122291571)_(122684 719_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,291,571 | 122,684,719 |
| nssv15119916 | Submitted genomic | NC_000007.12:g.(?_ 122078807)_(122471 955_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 122,078,807 | 122,471,955 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119916 | GRCh37: NC_000007.13:g.(?_122291571)_(122684719_?)dup, GRCh38: NC_000007.14:g.(?_122651517)_(123044665_?)dup, NCBI36: NC_000007.12:g.(?_122078807)_(122471955_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000053505.4, VCV000059655.1 | 3 |