nsv4580720
- 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:150
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: 670 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 670 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4580720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,514,162 | 2,514,311 |
| nsv4580720 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187515.1 | Chr1|NT_18 7515.1 | 65,352 | 65,501 |
| nsv4580720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 2,445,601 | 2,445,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16102427 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16102427 | Remapped | Perfect | NT_187515.1:g.(?_6 5352)_(65501_?)dup | GRCh38.p12 | Second Pass | NT_187515.1 | Chr1|NT_18 7515.1 | 65,352 | 65,501 |
| nssv16102427 | Remapped | Perfect | NC_000001.11:g.(?_ 2514162)_(2514311_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,514,162 | 2,514,311 |
| nssv16102427 | Submitted genomic | NC_000001.10:g.(?_ 2445601)_(2445750_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 2,445,601 | 2,445,750 |
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) |
|---|---|---|---|
| nssv16102427 | 0.002 | 2 | 845 |