nsv4914331
- 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:471
- 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: 131 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4914331 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 50,272,011 | 50,272,481 | ||
| nsv4914331 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000003.11 | Chr3 | 50,309,442 | 50,309,912 |
| nsv4914331 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871059.1 | Chr3|NW_00 3871059.1 | 41,859 | 42,329 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16453660 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16453660 | Submitted genomic | NC_000003.12:g.502 72011_50272481dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 50,272,011 | 50,272,481 | ||
| nssv16453660 | Remapped | Perfect | NW_003871059.1:g.4 1859_42329dup | GRCh37.p13 | First Pass | NW_003871059.1 | Chr3|NW_00 3871059.1 | 41,859 | 42,329 |
| nssv16453660 | Remapped | Perfect | NC_000003.11:g.503 09442_50309912dup | GRCh37.p13 | Second Pass | NC_000003.11 | Chr3 | 50,309,442 | 50,309,912 |
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) |
|---|---|---|---|
| nssv16453660 | <0.001 | 13 | 29246 |