nsv3918078
- 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:2,892,910
- Description:GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)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: 7714 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 7715 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 1843 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918078 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 102,808,199 | 105,701,108 |
| nsv3918078 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 102,448,646 | 105,341,555 |
| nsv3918078 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 102,235,882 | 105,128,791 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121481 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054157.7, VCV000060283.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121481 | Submitted genomic | NC_000007.14:g.(?_ 102808199)_(105701 108_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 102,808,199 | 105,701,108 |
| nssv15121481 | Submitted genomic | NC_000007.13:g.(?_ 102448646)_(105341 555_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,448,646 | 105,341,555 |
| nssv15121481 | Submitted genomic | NC_000007.12:g.(?_ 102235882)_(105128 791_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 102,235,882 | 105,128,791 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121481 | GRCh37: NC_000007.13:g.(?_102448646)_(105341555_?)del, GRCh38: NC_000007.14:g.(?_102808199)_(105701108_?)del, NCBI36: NC_000007.12:g.(?_102235882)_(105128791_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054157.7, VCV000060283.1 | 1 |