nsv3924761
- 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:1,249,147
- Description:GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 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: 4369 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4369 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1091 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924761 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 20,127,290 | 21,376,436 |
| nsv3924761 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,595,449 | 21,844,595 |
| nsv3924761 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,665,289 | 20,914,435 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121973 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053804.4, VCV000059933.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121973 | Submitted genomic | NC_000014.9:g.(?_2 0127290)_(21376436 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,127,290 | 21,376,436 |
| nssv15121973 | Submitted genomic | NC_000014.8:g.(?_2 0595449)_(21844595 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,595,449 | 21,844,595 |
| nssv15121973 | Submitted genomic | NC_000014.7:g.(?_1 9665289)_(20914435 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,665,289 | 20,914,435 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121973 | GRCh37: NC_000014.8:g.(?_20595449)_(21844595_?)dup, GRCh38: NC_000014.9:g.(?_20127290)_(21376436_?)dup, NCBI36: NC_000014.7:g.(?_19665289)_(20914435_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053804.4, VCV000059933.1 | 3 |