nsv3920109
- 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:5,756,018
- Description:GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)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: 22533 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 22534 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 5558 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 |
|---|---|---|---|---|---|---|---|
| nsv3920109 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 175,536,771 | 181,292,788 |
| nsv3920109 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 174,963,774 | 180,719,789 |
| nsv3920109 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 174,896,380 | 180,652,395 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139441 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141987.5, VCV000153687.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139441 | Submitted genomic | NC_000005.10:g.(?_ 175536771)_(181292 788_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 175,536,771 | 181,292,788 |
| nssv15139441 | Submitted genomic | NC_000005.9:g.(?_1 74963774)_(1807197 89_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 174,963,774 | 180,719,789 |
| nssv15139441 | Submitted genomic | NC_000005.8:g.(?_1 74896380)_(1806523 95_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 174,896,380 | 180,652,395 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139441 | GRCh37: NC_000005.9:g.(?_174963774)_(180719789_?)del, GRCh38: NC_000005.10:g.(?_175536771)_(181292788_?)del, NCBI36: NC_000005.8:g.(?_174896380)_(180652395_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141987.5, VCV000153687.2 | 1 |