nsv4588381
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,359
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 161 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4588381 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 190,067,328 | 190,090,686 |
| nsv4588381 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 190,988,483 | 191,011,841 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16106294 | duplication | Curated | Curated |
| nssv16107400 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16106294 | Remapped | Perfect | NC_000004.12:g.(?_ 190067328)_(190090 686_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 190,067,328 | 190,090,686 |
| nssv16107400 | Remapped | Perfect | NC_000004.12:g.(?_ 190067328)_(190090 686_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 190,067,328 | 190,090,686 |
| nssv16106294 | Submitted genomic | NC_000004.11:g.(?_ 190988483)_(191011 841_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,988,483 | 191,011,841 | ||
| nssv16107400 | Submitted genomic | NC_000004.11:g.(?_ 190988483)_(191011 841_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,988,483 | 191,011,841 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16106294 | 0.026 | 22 | 845 |
| nssv16107400 | 0.002 | 2 | 845 |