nsv3911849
- 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:17,518,290
- Description:GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)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: 48706 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 48687 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 12449 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3911849 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 39,196,172 | 56,714,461 |
nsv3911849 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 39,665,376 | 57,181,179 |
nsv3911849 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 38,735,127 | 56,250,932 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15137747 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000140717.4, VCV000152063.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15137747 | Submitted genomic | NC_000014.9:g.(?_3 9196172)_(56714461 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 39,196,172 | 56,714,461 |
nssv15137747 | Submitted genomic | NC_000014.8:g.(?_3 9665376)_(57181179 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 39,665,376 | 57,181,179 |
nssv15137747 | Submitted genomic | NC_000014.7:g.(?_3 8735127)_(56250932 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 38,735,127 | 56,250,932 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15137747 | GRCh37: NC_000014.8:g.(?_39665376)_(57181179_?)dup, GRCh38: NC_000014.9:g.(?_39196172)_(56714461_?)dup, NCBI36: NC_000014.7:g.(?_38735127)_(56250932_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000140717.4, VCV000152063.2 | 3 |