nsv4869360
- 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:223
- 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: 1048 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 1048 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4869360 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,466,382 | 22,466,604 |
| nsv4869360 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 102,022 | 102,244 |
| nsv4869360 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,820,719 | 22,820,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16408284 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16408284 | Remapped | Perfect | NT_187629.1:g.1020 22_102244dup | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 102,022 | 102,244 |
| nssv16408284 | Remapped | Perfect | NC_000022.11:g.224 66382_22466604dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,466,382 | 22,466,604 |
| nssv16408284 | Submitted genomic | NC_000022.10:g.228 20719_22820941dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,820,719 | 22,820,941 |
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) |
|---|---|---|---|
| nssv16408284 | <0.001 | 1 | 16828 |