nsv3923642
- 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:70,162,423
- Description:GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)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: 195617 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 195516 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 52458 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 |
|---|---|---|---|---|---|---|---|
| nsv3923642 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 44,164,751 | 114,327,173 |
| nsv3923642 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 44,738,887 | 115,085,141 |
| nsv3923642 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 43,636,887 | 114,110,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161298 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053764.8, VCV000059893.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161298 | Submitted genomic | NC_000013.11:g.(?_ 44164751)_(1143271 73_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 44,164,751 | 114,327,173 |
| nssv15161298 | Submitted genomic | NC_000013.10:g.(?_ 44738887)_(1150851 41_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 44,738,887 | 115,085,141 |
| nssv15161298 | Submitted genomic | NC_000013.9:g.(?_4 3636887)_(11411075 0_?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 43,636,887 | 114,110,750 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161298 | GRCh37: NC_000013.10:g.(?_44738887)_(115085141_?)dup, GRCh38: NC_000013.11:g.(?_44164751)_(114327173_?)dup, NCBI36: NC_000013.9:g.(?_43636887)_(114110750_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053764.8, VCV000059893.2 | 3 |