nsv4856080
- 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:7,086
- 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: 197 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4856080 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000015.10 | Chr15 | 82,634,689 | 82,641,774 |
| nsv4856080 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187606.1 | Chr15|NT_1 87606.1 | 423,795 | 430,880 |
| nsv4856080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 83,303,440 | 83,314,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16364233 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16364233 | Remapped | Pass | NT_187606.1:g.4237 95_430880del | GRCh38.p12 | First Pass | NT_187606.1 | Chr15|NT_1 87606.1 | 423,795 | 430,880 |
| nssv16364233 | Remapped | Pass | NC_000015.10:g.826 34689_82641774del | GRCh38.p12 | Second Pass | NC_000015.10 | Chr15 | 82,634,689 | 82,641,774 |
| nssv16364233 | Submitted genomic | NC_000015.9:g.8330 3440_83314289del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 83,303,440 | 83,314,289 |
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) |
|---|---|---|---|
| nssv16364233 | <0.001 | 2 | 16834 |