nsv3912608
- 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:436,473
- Description:GRCh38/hg38 7q22.1(chr7:103326703-103763175)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: 989 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 989 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 292 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912608 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 103,326,703 | 103,763,175 |
| nsv3912608 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 102,967,150 | 103,403,622 |
| nsv3912608 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 102,754,386 | 103,190,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131904 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000133830.4, VCV000144348.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131904 | Submitted genomic | NC_000007.14:g.(?_ 103326703)_(103763 175_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 103,326,703 | 103,763,175 |
| nssv15131904 | Submitted genomic | NC_000007.13:g.(?_ 102967150)_(103403 622_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,967,150 | 103,403,622 |
| nssv15131904 | Submitted genomic | NC_000007.12:g.(?_ 102754386)_(103190 858_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 102,754,386 | 103,190,858 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131904 | GRCh37: NC_000007.13:g.(?_102967150)_(103403622_?)del, GRCh38: NC_000007.14:g.(?_103326703)_(103763175_?)del, NCBI36: NC_000007.12:g.(?_102754386)_(103190858_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000133830.4, VCV000144348.2 | 1 |