nsv4630643
- 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:688
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: 102 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4630643 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 28,595,404 | 28,596,091 |
| nsv4630643 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 26,922,422 | 26,923,109 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16135863 | deletion | Curated | Curated |
| nssv16139422 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16135863 | Remapped | Perfect | NC_000017.11:g.(?_ 28595404)_(2859609 1_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 28,595,404 | 28,596,091 |
| nssv16139422 | Remapped | Perfect | NC_000017.11:g.(?_ 28595404)_(2859609 1_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 28,595,404 | 28,596,091 |
| nssv16135863 | Submitted genomic | NC_000017.10:g.(?_ 26922422)_(2692310 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 26,922,422 | 26,923,109 | ||
| nssv16139422 | Submitted genomic | NC_000017.10:g.(?_ 26922422)_(2692310 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 26,922,422 | 26,923,109 |
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) |
|---|---|---|---|
| nssv16135863 | 0.002 | 2 | 845 |
| nssv16139422 | 0.04 | 34 | 845 |