nsv4864052
- 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:1,446
- 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: 555 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 403 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4864052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 21,641,914 | 21,643,359 |
| nsv4864052 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,461,469 | 1,462,914 |
| nsv4864052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 21,653,235 | 21,654,680 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16387042 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16387042 | Remapped | Perfect | NW_017852933.1:g.1 461469_1462914dup | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,461,469 | 1,462,914 |
| nssv16387042 | Remapped | Perfect | NC_000016.10:g.216 41914_21643359dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 21,641,914 | 21,643,359 |
| nssv16387042 | Submitted genomic | NC_000016.9:g.2165 3235_21654680dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 21,653,235 | 21,654,680 |
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) |
|---|---|---|---|
| nssv16387042 | <0.001 | 1 | 16834 |