nsv4617706
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:189,425
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: 531 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 478 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4617706 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,896,119 | 50,085,543 |
| nsv4617706 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_017363816.1 | Chr11|NW_0 17363816.1 | 1 | 127,169 |
| nsv4617706 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 49,917,671 | 50,044,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16124458 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16124458 | Remapped | Good | NW_017363816.1:g.( ?_1)_(127169_?)dup | GRCh38.p12 | Second Pass | NW_017363816.1 | Chr11|NW_0 17363816.1 | 1 | 127,169 |
| nssv16124458 | Remapped | Pass | NC_000011.10:g.(?_ 49896119)_(5008554 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,896,119 | 50,085,543 |
| nssv16124458 | Submitted genomic | NC_000011.9:g.(?_4 9917671)_(50044702 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,917,671 | 50,044,702 |
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) |
|---|---|---|---|
| nssv16124458 | <0.001 | 1 | 5919 |