nsv4772812
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,204
- Publication(s):Abel 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: 176 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4772812 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 28,342,311 (-2, +61) | 28,356,780 (-64, +2) |
| nsv4772812 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 135,959 (-2, +61) | 156,162 (-64, +2) |
| nsv4772812 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,668,822 (-2, +61) | 28,683,291 (-64, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16311752 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16311752 | Remapped | Pass | NW_018654706.1:g.( 135957_136020)_(15 6098_156164)del | GRCh38.p12 | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 135,959 (-2, +61) | 156,162 (-64, +2) |
| nssv16311752 | Remapped | Perfect | NC_000001.11:g.(28 342309_28342372)_( 28356716_28356782) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 28,342,311 (-2, +61) | 28,356,780 (-64, +2) |
| nssv16311752 | Submitted genomic | NC_000001.10:g.(28 668820_28668883)_( 28683227_28683293) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,668,822 (-2, +61) | 28,683,291 (-64, +2) |
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) |
|---|---|---|---|
| nssv16311752 | <0.001 | 1 | 16834 |