nsv3910344
- 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:18,553,326
- Description:GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)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: 68061 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 67856 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 18110 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 |
|---|---|---|---|---|---|---|---|
| nsv3910344 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 140,754,198 | 159,307,523 |
| nsv3910344 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 140,453,998 | 159,100,212 |
| nsv3910344 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 140,100,467 | 158,792,973 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146590 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054176.6, VCV000060300.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146590 | Submitted genomic | NC_000007.14:g.(?_ 140754198)_(159307 523_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 140,754,198 | 159,307,523 |
| nssv15146590 | Submitted genomic | NC_000007.13:g.(?_ 140453998)_(159100 212_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 140,453,998 | 159,100,212 |
| nssv15146590 | Submitted genomic | NC_000007.12:g.(?_ 140100467)_(158792 973_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 140,100,467 | 158,792,973 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146590 | GRCh37: NC_000007.13:g.(?_140453998)_(159100212_?)del, GRCh38: NC_000007.14:g.(?_140754198)_(159307523_?)del, NCBI36: NC_000007.12:g.(?_140100467)_(158792973_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054176.6, VCV000060300.1 | 1 |