nsv3920627
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,449,695
- Description:NCBI36/hg18 5q23.2-31.1(chr5:126889565-135297054)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: 19130 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 19130 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 4767 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3920627 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 127,501,000 | 127,501,000 | 135,950,694 | 135,950,694 |
| nsv3920627 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 126,836,692 | 126,861,666 | 135,269,155 | 135,286,383 |
| nsv3920627 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 126,864,591 | 126,889,565 | 135,297,054 | 135,314,282 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15126199 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000449825.2, VCV000398810.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15126199 | Remapped | Perfect | NC_000005.10:g.(12 7501000_127501000) _(135950694_135950 694)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 127,501,000 | 127,501,000 | 135,950,694 | 135,950,694 |
| nssv15126199 | Remapped | Perfect | NC_000005.9:g.(126 836692_126861666)_ (135269155_1352863 83)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 126,836,692 | 126,861,666 | 135,269,155 | 135,286,383 |
| nssv15126199 | Submitted genomic | NC_000005.8:g.(126 864591_126889565)_ (135297054_1353142 82)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 126,864,591 | 126,889,565 | 135,297,054 | 135,314,282 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15126199 | NCBI36: NC_000005.8:g.(126864591_126889565)_(135297054_135314282)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000449825.2, VCV000398810.2 | 1 |