nsv7148084
- 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:6,268,204
- Description:GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1 AND 3p- syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 19565 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 19571 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv7148084 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 3,627,858 | 3,627,858 | 9,896,061 | 9,896,061 |
| nsv7148084 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 3,669,542 | 3,691,505 | 9,917,651 | 9,937,745 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842033 | copy number loss | Multiple | Multiple | 3p- syndrome; CHROMOSOME 3pter-p25 DELETION SYNDROME | Pathogenic | ClinVar | RCV003330127.1, VCV002580893.1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18842033 | Remapped | Perfect | NC_000003.12:g.(36 27858_3627858)_(98 96061_9896061)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 3,627,858 | 3,627,858 | 9,896,061 | 9,896,061 |
| nssv18842033 | Submitted genomic | NC_000003.11:g.(36 69542_3691505)_(99 17651_9937745)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 3,669,542 | 3,691,505 | 9,917,651 | 9,937,745 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842033 | GRCh37: NC_000003.11:g.(3669542_3691505)_(9917651_9937745)del | copy number loss | de novo | 3p- syndrome; CHROMOSOME 3pter-p25 DELETION SYNDROME | Pathogenic | ClinVar | RCV003330127.1, VCV002580893.1 | 1 |