nsv4869130
- 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:5,974
- 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: 1120 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 1120 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4869130 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,580,268 | 22,586,241 |
| nsv4869130 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 215,925 | 221,898 |
| nsv4869130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,922,732 | 22,928,712 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16377232 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16377232 | Remapped | Good | NT_187629.1:g.2159 25_221898del | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 215,925 | 221,898 |
| nssv16377232 | Remapped | Good | NC_000022.11:g.225 80268_22586241del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,580,268 | 22,586,241 |
| nssv16377232 | Submitted genomic | NC_000022.10:g.229 22732_22928712del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,922,732 | 22,928,712 |
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) |
|---|---|---|---|
| nssv16377232 | 0.03 | 501 | 16826 |