nsv3916297
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,789,400
- Description:
GRCh38/hg38 7p22.3(chr7:54185-1843584)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: 12763 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 12804 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 2674 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916297 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 54,185 | 1,843,584 |
| nsv3916297 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 54,185 | 1,883,220 |
| nsv3916297 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 149,268 | 1,849,746 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133568 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052253.9, VCV000032434.2 | 1 |
| nssv15139534 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148193.4, VCV000160967.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133568 | Submitted genomic | NC_000007.14:g.(?_ 54185)_(1843584_?) del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 54,185 | 1,843,584 |
| nssv15139534 | Submitted genomic | NC_000007.14:g.(?_ 54185)_(1843584_?) del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 54,185 | 1,843,584 |
| nssv15133568 | Submitted genomic | NC_000007.13:g.(?_ 54185)_(1883220_?) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 54,185 | 1,883,220 |
| nssv15139534 | Submitted genomic | NC_000007.13:g.(?_ 54185)_(1883220_?) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 54,185 | 1,883,220 |
| nssv15133568 | Submitted genomic | NC_000007.12:g.(?_ 149268)_(1849746_? )del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 149,268 | 1,849,746 |
| nssv15139534 | Submitted genomic | NC_000007.12:g.(?_ 149268)_(1849746_? )del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 149,268 | 1,849,746 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133568 | GRCh37: NC_000007.13:g.(?_54185)_(1883220_?)del, GRCh38: NC_000007.14:g.(?_54185)_(1843584_?)del, NCBI36: NC_000007.12:g.(?_149268)_(1849746_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052253.9, VCV000032434.2 | 1 |
| nssv15139534 | GRCh37: NC_000007.13:g.(?_54185)_(1883220_?)del, GRCh38: NC_000007.14:g.(?_54185)_(1843584_?)del, NCBI36: NC_000007.12:g.(?_149268)_(1849746_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000148193.4, VCV000160967.1 | 1 |