nsv3924066
- 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:1,413,064
- Description:GRCh38/hg38 14q24.3(chr14:74986195-76399258)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: 3604 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 3595 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 770 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924066 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 74,986,195 | 76,399,258 |
| nsv3924066 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 75,452,898 | 76,865,601 |
| nsv3924066 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 74,522,651 | 75,935,354 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136340 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137114.4, VCV000148020.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136340 | Submitted genomic | NC_000014.9:g.(?_7 4986195)_(76399258 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 74,986,195 | 76,399,258 |
| nssv15136340 | Submitted genomic | NC_000014.8:g.(?_7 5452898)_(76865601 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 75,452,898 | 76,865,601 |
| nssv15136340 | Submitted genomic | NC_000014.7:g.(?_7 4522651)_(75935354 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 74,522,651 | 75,935,354 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136340 | GRCh37: NC_000014.8:g.(?_75452898)_(76865601_?)del, GRCh38: NC_000014.9:g.(?_74986195)_(76399258_?)del, NCBI36: NC_000014.7:g.(?_74522651)_(75935354_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137114.4, VCV000148020.2 | 1 |