nsv3914211
- 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:29,972,225
- Description:GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)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: 98286 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 98033 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 26042 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914211 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 129,310,166 | 159,282,390 |
| nsv3914211 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 128,950,007 | 159,075,079 |
| nsv3914211 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 128,737,243 | 158,767,840 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145666 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050876.5, VCV000057215.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145666 | Submitted genomic | NC_000007.14:g.(?_ 129310166)_(159282 390_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 129,310,166 | 159,282,390 |
| nssv15145666 | Submitted genomic | NC_000007.13:g.(?_ 128950007)_(159075 079_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 128,950,007 | 159,075,079 |
| nssv15145666 | Submitted genomic | NC_000007.12:g.(?_ 128737243)_(158767 840_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 128,737,243 | 158,767,840 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145666 | GRCh37: NC_000007.13:g.(?_128950007)_(159075079_?)dup, GRCh38: NC_000007.14:g.(?_129310166)_(159282390_?)dup, NCBI36: NC_000007.12:g.(?_128737243)_(158767840_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050876.5, VCV000057215.1 | 3 |