nsv3919087
- 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:6,084,355
- Description:GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1 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: 15882 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 15882 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 4005 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919087 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 120,739,630 | 126,823,984 |
| nsv3919087 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 120,075,325 | 126,159,676 |
| nsv3919087 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 120,103,224 | 126,187,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121078 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052108.7, VCV000058355.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121078 | Submitted genomic | NC_000005.10:g.(?_ 120739630)_(126823 984_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 120,739,630 | 126,823,984 |
| nssv15121078 | Submitted genomic | NC_000005.9:g.(?_1 20075325)_(1261596 76_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,075,325 | 126,159,676 |
| nssv15121078 | Submitted genomic | NC_000005.8:g.(?_1 20103224)_(1261875 75_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 120,103,224 | 126,187,575 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121078 | GRCh37: NC_000005.9:g.(?_120075325)_(126159676_?)del, GRCh38: NC_000005.10:g.(?_120739630)_(126823984_?)del, NCBI36: NC_000005.8:g.(?_120103224)_(126187575_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000052108.7, VCV000058355.1 | 1 |