nsv3913465
- 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:502,719
- Description:GRCh38/hg38 14q11.2(chr14:23260803-23763521)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: 1178 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1178 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913465 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 23,260,803 | 23,763,521 |
| nsv3913465 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 23,730,012 | 24,232,730 |
| nsv3913465 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 22,799,852 | 23,302,570 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132176 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000052058.4, VCV000058306.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132176 | Submitted genomic | NC_000014.9:g.(?_2 3260803)_(23763521 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 23,260,803 | 23,763,521 |
| nssv15132176 | Submitted genomic | NC_000014.8:g.(?_2 3730012)_(24232730 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 23,730,012 | 24,232,730 |
| nssv15132176 | Submitted genomic | NC_000014.7:g.(?_2 2799852)_(23302570 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 22,799,852 | 23,302,570 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132176 | GRCh37: NC_000014.8:g.(?_23730012)_(24232730_?)dup, GRCh38: NC_000014.9:g.(?_23260803)_(23763521_?)dup, NCBI36: NC_000014.7:g.(?_22799852)_(23302570_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000052058.4, VCV000058306.1 | 3 |