nsv3921475
- 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:478,914
- Description:GRCh38/hg38 14q24.3(chr14:75489052-75967965)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: 1207 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1207 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 250 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 |
|---|---|---|---|---|---|---|---|
| nsv3921475 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 75,489,052 | 75,967,965 |
| nsv3921475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 75,955,395 | 76,434,308 |
| nsv3921475 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 75,025,148 | 75,504,061 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121072 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000052084.6, VCV000058332.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121072 | Submitted genomic | NC_000014.9:g.(?_7 5489052)_(75967965 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 75,489,052 | 75,967,965 |
| nssv15121072 | Submitted genomic | NC_000014.8:g.(?_7 5955395)_(76434308 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 75,955,395 | 76,434,308 |
| nssv15121072 | Submitted genomic | NC_000014.7:g.(?_7 5025148)_(75504061 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 75,025,148 | 75,504,061 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121072 | GRCh37: NC_000014.8:g.(?_75955395)_(76434308_?)dup, GRCh38: NC_000014.9:g.(?_75489052)_(75967965_?)dup, NCBI36: NC_000014.7:g.(?_75025148)_(75504061_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000052084.6, VCV000058332.1 | 3 |