nsv4989305
- 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:83,142
- 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: 239 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 240 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4989305 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 112,894,399 | 112,977,540 | ||
| nsv4989305 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 112,765,122 | 112,848,262 |
| nsv4989305 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003871078.1 | Chr11|NW_0 03871078.1 | 77,126 | 160,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16534589 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16534589 | Submitted genomic | NC_000011.10:g.112 894399_112977540du p | GRCh38 (hg38) | NC_000011.10 | Chr11 | 112,894,399 | 112,977,540 | ||
| nssv16534589 | Remapped | Good | NW_003871078.1:g.7 7126_160266dup | GRCh37.p13 | First Pass | NW_003871078.1 | Chr11|NW_0 03871078.1 | 77,126 | 160,266 |
| nssv16534589 | Remapped | Good | NC_000011.9:g.1127 65122_112848262dup | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 112,765,122 | 112,848,262 |
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) |
|---|---|---|---|
| nssv16534589 | <0.001 | 1 | 29246 |