nsv4679008
- Organism: Homo sapiens
- Study:nstd189 (Perez-Palma et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:690,702
- Publication(s):Pérez-Palma et al. 2020
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: 2815 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 982 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 2814 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679008 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,529,807 | 144,220,508 |
| nsv4679008 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 149,171 | 589,656 |
| nsv4679008 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000007.13 | Chr7 | 143,226,900 | 143,917,601 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210984 | deletion | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210984 | Remapped | Pass | NW_018654714.1:g.( ?_149171)_(589656_ ?)del | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 149,171 | 589,656 |
| nssv16210984 | Remapped | Perfect | NC_000007.14:g.(?_ 143529807)_(144220 508_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,529,807 | 144,220,508 |
| nssv16210984 | Submitted genomic | NC_000007.13:g.(?_ 143226900)_(143917 601_?)del | GRCh37.p13 | NC_000007.13 | Chr7 | 143,226,900 | 143,917,601 |
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) |
|---|---|
| nssv16210984 | <0.001 |