nsv4898364
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,330
- 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: 174 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4898364 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,119,882 (-25, +85) | 206,127,211 (-43, +29) | ||
| nsv4898364 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,214,120 (-25, +85) | 206,221,449 (-43, +29) |
| nsv4898364 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 110,736 (-25, +85) | 118,065 (-43, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16425150 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16425150 | Submitted genomic | NC_000001.11:g.(20 6119857_206119967) _(206127168_206127 240)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,119,882 (-25, +85) | 206,127,211 (-43, +29) | ||
| nssv16425150 | Remapped | Perfect | NW_003871057.1:g.( 110711_110821)_(11 8022_118094)del | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 110,736 (-25, +85) | 118,065 (-43, +29) |
| nssv16425150 | Remapped | Perfect | NC_000001.10:g.(20 6214095_206214205) _(206221406_206221 478)del | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,214,120 (-25, +85) | 206,221,449 (-43, +29) |
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) |
|---|---|---|---|
| nssv16425150 | <0.001 | 1 | 29246 |