nsv4826127
- 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:462
- 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: 140 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4826127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 179,677,353 (-2, +43) | 179,677,814 (-86, +1) |
| nsv4826127 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 443,040 (-2, +43) | 443,501 (-86, +1) |
| nsv4826127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 179,104,354 (-2, +43) | 179,104,815 (-86, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16330015 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16330015 | Remapped | Perfect | NW_016107298.1:g.( 443038_443083)_(44 3415_443502)del | GRCh38.p12 | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 443,040 (-2, +43) | 443,501 (-86, +1) |
| nssv16330015 | Remapped | Perfect | NC_000005.10:g.(17 9677351_179677396) _(179677728_179677 815)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 179,677,353 (-2, +43) | 179,677,814 (-86, +1) |
| nssv16330015 | Submitted genomic | NC_000005.9:g.(179 104352_179104397)_ (179104729_1791048 16)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 179,104,354 (-2, +43) | 179,104,815 (-86, +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) |
|---|---|---|---|
| nssv16330015 | <0.001 | 1 | 16834 |