nsv3922265
- 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:4,605,534
- Description:GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)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: 17493 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 17684 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 4583 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922265 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 20,412,587 | 25,018,120 |
| nsv3922265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,880,746 | 25,487,326 |
| nsv3922265 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,950,586 | 24,557,166 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134537 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000137725.4, VCV000148657.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134537 | Submitted genomic | NC_000014.9:g.(?_2 0412587)_(25018120 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,412,587 | 25,018,120 |
| nssv15134537 | Submitted genomic | NC_000014.8:g.(?_2 0880746)_(25487326 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,880,746 | 25,487,326 |
| nssv15134537 | Submitted genomic | NC_000014.7:g.(?_1 9950586)_(24557166 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,950,586 | 24,557,166 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134537 | GRCh37: NC_000014.8:g.(?_20880746)_(25487326_?)dup, GRCh38: NC_000014.9:g.(?_20412587)_(25018120_?)dup, NCBI36: NC_000014.7:g.(?_19950586)_(24557166_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000137725.4, VCV000148657.2 | 3 |