nsv3923450
- 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:2,859,680
- Description:GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)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: 7050 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 7041 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1498 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923450 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 137,836,682 | 140,696,361 |
| nsv3923450 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 137,172,371 | 140,075,946 |
| nsv3923450 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 137,200,270 | 140,056,130 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134083 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134725.4, VCV000145330.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134083 | Submitted genomic | NC_000005.10:g.(?_ 137836682)_(140696 361_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 137,836,682 | 140,696,361 |
| nssv15134083 | Submitted genomic | NC_000005.9:g.(?_1 37172371)_(1400759 46_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,172,371 | 140,075,946 |
| nssv15134083 | Submitted genomic | NC_000005.8:g.(?_1 37200270)_(1400561 30_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 137,200,270 | 140,056,130 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134083 | GRCh37: NC_000005.9:g.(?_137172371)_(140075946_?)dup, GRCh38: NC_000005.10:g.(?_137836682)_(140696361_?)dup, NCBI36: NC_000005.8:g.(?_137200270)_(140056130_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134725.4, VCV000145330.2 | 3 |