nsv4840281
- 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:839
- 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: 106 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4840281 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 74,828,619 (-1, +113) | 74,829,457 (-51, +2) |
| nsv4840281 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 33,295 (-1, +113) | 34,133 (-51, +2) |
| nsv4840281 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 76,588,377 (-1, +113) | 76,589,215 (-51, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16355536 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16355536 | Remapped | Perfect | NW_009646202.1:g.( 33294_33408)_(3408 2_34135)del | GRCh38.p12 | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 33,295 (-1, +113) | 34,133 (-51, +2) |
| nssv16355536 | Remapped | Perfect | NC_000010.11:g.(74 828618_74828732)_( 74829406_74829459) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 74,828,619 (-1, +113) | 74,829,457 (-51, +2) |
| nssv16355536 | Submitted genomic | NC_000010.10:g.(76 588376_76588490)_( 76589164_76589217) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 76,588,377 (-1, +113) | 76,589,215 (-51, +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) |
|---|---|---|---|
| nssv16355536 | <0.001 | 2 | 16834 |