nsv4780735
- 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:3,308
- 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: 108 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4780735 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 28,286,635 (-48, +2) | 28,289,942 (-2, +24) |
| nsv4780735 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 80,279 (-48, +2) | 83,586 (-2, +24) |
| nsv4780735 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,613,146 (-48, +2) | 28,616,453 (-2, +24) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16382192 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16382192 | Remapped | Perfect | NW_018654706.1:g.( 80231_80281)_(8358 4_83610)dup | GRCh38.p12 | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 80,279 (-48, +2) | 83,586 (-2, +24) |
| nssv16382192 | Remapped | Perfect | NC_000001.11:g.(28 286587_28286637)_( 28289940_28289966) dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 28,286,635 (-48, +2) | 28,289,942 (-2, +24) |
| nssv16382192 | Submitted genomic | NC_000001.10:g.(28 613098_28613148)_( 28616451_28616477) dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,613,146 (-48, +2) | 28,616,453 (-2, +24) |
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) |
|---|---|---|---|
| nssv16382192 | <0.001 | 1 | 16834 |