nsv4588377
- 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:93,033
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: 677 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4588377 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,995,543 | 190,088,575 |
| nsv4588377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 190,916,698 | 191,009,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16104647 | duplication | Curated | Curated |
| nssv16106800 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16104647 | Remapped | Perfect | NC_000004.12:g.(?_ 189995543)_(190088 575_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,995,543 | 190,088,575 |
| nssv16106800 | Remapped | Perfect | NC_000004.12:g.(?_ 189995543)_(190088 575_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,995,543 | 190,088,575 |
| nssv16104647 | Submitted genomic | NC_000004.11:g.(?_ 190916698)_(191009 730_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,916,698 | 191,009,730 | ||
| nssv16106800 | Submitted genomic | NC_000004.11:g.(?_ 190916698)_(191009 730_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,916,698 | 191,009,730 |
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) |
|---|---|---|---|
| nssv16104647 | 0.054 | 46 | 845 |
| nssv16106800 | 0.005 | 4 | 845 |