nsv4600650
- 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:4,742
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: 239 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4600650 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 47,756,092 | 47,760,833 |
| nsv4600650 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 47,795,690 | 47,800,431 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16120312 | deletion | Curated | Curated |
| nssv16126878 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16120312 | Remapped | Perfect | NC_000007.14:g.(?_ 47756092)_(4776083 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 47,756,092 | 47,760,833 |
| nssv16126878 | Remapped | Perfect | NC_000007.14:g.(?_ 47756092)_(4776083 3_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 47,756,092 | 47,760,833 |
| nssv16120312 | Submitted genomic | NC_000007.13:g.(?_ 47795690)_(4780043 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,795,690 | 47,800,431 | ||
| nssv16126878 | Submitted genomic | NC_000007.13:g.(?_ 47795690)_(4780043 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,795,690 | 47,800,431 |
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) |
|---|---|---|---|
| nssv16120312 | 0.017 | 14 | 845 |
| nssv16126878 | 0.002 | 2 | 845 |