nsv4859562
- 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:607
- 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: 218 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4859562 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 48,516,780 (-1, +1) | 48,517,386 (-1, +1) |
| nsv4859562 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171814.1 | Chr18|NW_0 13171814.1 | 1,799 (-1, +1) | 2,405 (-1, +1) |
| nsv4859562 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 46,043,151 (-1, +1) | 46,043,757 (-1, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16371276 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16371276 | Remapped | Perfect | NW_013171814.1:g.( 1798_1800)_(2404_2 406)del | GRCh38.p12 | Second Pass | NW_013171814.1 | Chr18|NW_0 13171814.1 | 1,799 (-1, +1) | 2,405 (-1, +1) |
| nssv16371276 | Remapped | Perfect | NC_000018.10:g.(48 516779_48516781)_( 48517385_48517387) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 48,516,780 (-1, +1) | 48,517,386 (-1, +1) |
| nssv16371276 | Submitted genomic | NC_000018.9:g.(460 43150_46043152)_(4 6043756_46043758)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 46,043,151 (-1, +1) | 46,043,757 (-1, +1) |
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) |
|---|---|---|---|
| nssv16371276 | <0.001 | 3 | 16834 |