nsv5039000
- 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:190,068
- 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: 1091 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1087 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 480 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5039000 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 44,497,091 | 44,687,158 | ||
| nsv5039000 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000021.8 | Chr21 | 45,916,974 | 46,107,073 |
| nsv5039000 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_004775435.1 | Chr21|NW_0 04775435.1 | 414 | 190,479 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16586765 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16586765 | Submitted genomic | NC_000021.9:g.4449 7091_44687158del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 44,497,091 | 44,687,158 | ||
| nssv16586765 | Remapped | Good | NW_004775435.1:g.4 14_190479del | GRCh37.p13 | First Pass | NW_004775435.1 | Chr21|NW_0 04775435.1 | 414 | 190,479 |
| nssv16586765 | Remapped | Good | NC_000021.8:g.4591 6974_46107073del | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 45,916,974 | 46,107,073 |
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) |
|---|---|---|---|
| nssv16586765 | <0.001 | 1 | 29246 |