nsv3916054
- 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:7,638,489
- Description:GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 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: 20180 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 20183 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 5735 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916054 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 20,210,912 | 27,849,400 |
| nsv3916054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 20,250,535 | 27,889,019 |
| nsv3916054 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 20,217,060 | 27,855,544 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121556 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134333.3, VCV000144929.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121556 | Submitted genomic | NC_000007.14:g.(?_ 20210912)_(2784940 0_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 20,210,912 | 27,849,400 |
| nssv15121556 | Submitted genomic | NC_000007.13:g.(?_ 20250535)_(2788901 9_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 20,250,535 | 27,889,019 |
| nssv15121556 | Submitted genomic | NC_000007.12:g.(?_ 20217060)_(2785554 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 20,217,060 | 27,855,544 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121556 | GRCh37: NC_000007.13:g.(?_20250535)_(27889019_?)del, GRCh38: NC_000007.14:g.(?_20210912)_(27849400_?)del, NCBI36: NC_000007.12:g.(?_20217060)_(27855544_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134333.3, VCV000144929.1 | 1 |