nsv3924666
- 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:4,561,609
- Description:GRCh38/hg38 7q34-35(chr7:140061285-144622893)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: 14594 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 14347 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 5356 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3924666 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 140,061,285 | 144,622,893 |
nsv3924666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 139,761,085 | 144,319,986 |
nsv3924666 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 139,407,554 | 143,950,919 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15139653 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143724.5, VCV000155657.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15139653 | Submitted genomic | NC_000007.14:g.(?_ 140061285)_(144622 893_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 140,061,285 | 144,622,893 |
nssv15139653 | Submitted genomic | NC_000007.13:g.(?_ 139761085)_(144319 986_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 139,761,085 | 144,319,986 |
nssv15139653 | Submitted genomic | NC_000007.12:g.(?_ 139407554)_(143950 919_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,407,554 | 143,950,919 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15139653 | GRCh37: NC_000007.13:g.(?_139761085)_(144319986_?)dup, GRCh38: NC_000007.14:g.(?_140061285)_(144622893_?)dup, NCBI36: NC_000007.12:g.(?_139407554)_(143950919_?)dup | copy number gain | see ClinVar for details | See cases | Uncertain significance | ClinVar | RCV000143724.5, VCV000155657.2 | 3 |