nsv4821084
- 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:115
- 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: 334 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4821084 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 11,178,599 | 11,178,713 |
| nsv4821084 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,168,188 | 2,168,302 |
| nsv4821084 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 11,036,108 | 11,036,222 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16345719 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16345719 | Remapped | Perfect | NW_018654717.1:g.2 168188_2168302del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,168,188 | 2,168,302 |
| nssv16345719 | Remapped | Perfect | NC_000008.11:g.111 78599_11178713del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,178,599 | 11,178,713 |
| nssv16345719 | Submitted genomic | NC_000008.10:g.110 36108_11036222del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,036,108 | 11,036,222 |
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) |
|---|---|---|---|
| nssv16345719 | 0.077 | 1300 | 16834 |