nsv4780730
- 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:12,179
- 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: 151 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4780730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 28,225,862 | 28,238,040 (-1) |
| nsv4780730 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 19,506 | 31,684 (-1) |
| nsv4780730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,552,373 | 28,564,551 (-1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16382187 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16382187 | Remapped | Perfect | NW_018654706.1:g.1 9506_(31683_?)dup | GRCh38.p12 | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 19,506 | 31,684 (-1) |
| nssv16382187 | Remapped | Perfect | NC_000001.11:g.282 25862_(28238039_?) dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 28,225,862 | 28,238,040 (-1) |
| nssv16382187 | Submitted genomic | NC_000001.10:g.285 52373_(28564550_?) dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,552,373 | 28,564,551 (-1) |
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) |
|---|---|---|---|
| nssv16382187 | <0.001 | 1 | 16834 |