nsv3872414
- 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:25,292,830
- Description:GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 65108 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 65112 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3872414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 101,272,214 | 126,565,043 |
| nsv3872414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 100,607,918 | 125,900,735 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970043 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053515.3, VCV001527183.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970043 | Remapped | Perfect | NC_000005.10:g.(?_ 101272214)_(126565 043_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,272,214 | 126,565,043 |
| nssv17970043 | Submitted genomic | NC_000005.9:g.(?_1 00607918)_(1259007 35_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 100,607,918 | 125,900,735 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970043 | GRCh37: NC_000005.9:g.(?_100607918)_(125900735_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053515.3, VCV001527183.3 |