nsv4780732
- 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:1,439
- 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: 96 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4780732 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 28,238,395 (-36) | 28,239,833 (-2, +19) |
| nsv4780732 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 32,039 (-36) | 33,477 (-2, +19) |
| nsv4780732 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,564,906 (-36) | 28,566,344 (-2, +19) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16382189 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16382189 | Remapped | Perfect | NW_018654706.1:g.( 32003_?)_(33475_33 496)dup | GRCh38.p12 | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 32,039 (-36) | 33,477 (-2, +19) |
| nssv16382189 | Remapped | Perfect | NC_000001.11:g.(28 238359_?)_(2823983 1_28239852)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 28,238,395 (-36) | 28,239,833 (-2, +19) |
| nssv16382189 | Submitted genomic | NC_000001.10:g.(28 564870_?)_(2856634 2_28566363)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,564,906 (-36) | 28,566,344 (-2, +19) |
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) |
|---|---|---|---|
| nssv16382189 | <0.001 | 2 | 16834 |