nsv4579374
- 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:46
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: 177 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4579374 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 155,212,633 | 155,212,678 |
| nsv4579374 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,182,424 | 155,182,469 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16094339 | duplication | Curated | Curated |
| nssv16105515 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16094339 | Remapped | Perfect | NC_000001.11:g.(?_ 155212633)_(155212 678_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 155,212,633 | 155,212,678 |
| nssv16105515 | Remapped | Perfect | NC_000001.11:g.(?_ 155212633)_(155212 678_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 155,212,633 | 155,212,678 |
| nssv16094339 | Submitted genomic | NC_000001.10:g.(?_ 155182424)_(155182 469_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,182,424 | 155,182,469 | ||
| nssv16105515 | Submitted genomic | NC_000001.10:g.(?_ 155182424)_(155182 469_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,182,424 | 155,182,469 |
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) |
|---|---|---|---|
| nssv16094339 | 0.045 | 38 | 845 |
| nssv16105515 | 0.008 | 7 | 845 |