nsv4618277
- 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:177,501
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: 1111 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1111 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4618277 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 4,207,790 | 4,385,290 |
| nsv4618277 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 4,229,020 | 4,406,520 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16129360 | deletion | Curated | Curated |
| nssv16129985 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16129360 | Remapped | Perfect | NC_000011.10:g.(?_ 4207790)_(4385290_ ?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,207,790 | 4,385,290 |
| nssv16129985 | Remapped | Perfect | NC_000011.10:g.(?_ 4207790)_(4385290_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,207,790 | 4,385,290 |
| nssv16129360 | Submitted genomic | NC_000011.9:g.(?_4 229020)_(4406520_? )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 4,229,020 | 4,406,520 | ||
| nssv16129985 | Submitted genomic | NC_000011.9:g.(?_4 229020)_(4406520_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 4,229,020 | 4,406,520 |
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) |
|---|---|---|---|
| nssv16129360 | 0.044 | 262 | 5919 |
| nssv16129985 | 0.006 | 34 | 5919 |