nsv4728718
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,185,103
- Description:GRCh37/hg19 2p12(chr2:76035305-81220405)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13584 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 13584 SVs from 119 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728718 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 75,808,179 | 80,993,281 |
| nsv4728718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 76,035,305 | 81,220,405 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254660 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001260149.1, VCV000980973.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254660 | Remapped | Perfect | NC_000002.12:g.(?_ 75808179)_(8099328 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 75,808,179 | 80,993,281 |
| nssv16254660 | Submitted genomic | NC_000002.11:g.(?_ 76035305)_(8122040 5_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 76,035,305 | 81,220,405 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254660 | GRCh37: NC_000002.11:g.(?_76035305)_(81220405_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001260149.1, VCV000980973.1 | 1 |