nsv4813489
- 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:425,062
- 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: 1470 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 706 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 1470 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4813489 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 128,418,656 | 128,843,717 |
| nsv4813489 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187567.1 | Chr8|NT_18 7567.1 | 1 | 292,392 |
| nsv4813489 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 129,430,902 | 129,855,963 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16347608 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16347608 | Remapped | Pass | NT_187567.1:g.1_29 2392del | GRCh38.p12 | Second Pass | NT_187567.1 | Chr8|NT_18 7567.1 | 1 | 292,392 |
| nssv16347608 | Remapped | Perfect | NC_000008.11:g.128 418656_128843717de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,418,656 | 128,843,717 |
| nssv16347608 | Submitted genomic | NC_000008.10:g.129 430902_129855963de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 129,430,902 | 129,855,963 |
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) |
|---|---|---|---|
| nssv16347608 | <0.001 | 2 | 16834 |