nsv4858808
- 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:20,220
- 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: 320 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4858808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,100,541 (-30, +61) | 41,120,696 (-48, +30) |
| nsv4858808 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 250,228 (-30, +61) | 270,447 (-48, +30) |
| nsv4858808 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,256,793 (-30, +61) | 39,276,948 (-48, +30) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16368599 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16368599 | Remapped | Good | NW_003871091.1:g.( 250198_250289)_(27 0399_270477)del | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 250,228 (-30, +61) | 270,447 (-48, +30) |
| nssv16368599 | Remapped | Perfect | NC_000017.11:g.(41 100511_41100602)_( 41120648_41120726) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,100,541 (-30, +61) | 41,120,696 (-48, +30) |
| nssv16368599 | Submitted genomic | NC_000017.10:g.(39 256763_39256854)_( 39276900_39276978) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,256,793 (-30, +61) | 39,276,948 (-48, +30) |
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) |
|---|---|---|---|
| nssv16368599 | <0.001 | 3 | 16834 |