nsv4827490
- 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:10,120
- 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: 219 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4827490 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,827,319 | 39,837,438 |
| nsv4827490 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 577,955 | 588,074 |
| nsv4827490 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,684,838 | 39,694,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16346002 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16346002 | Remapped | Perfect | NT_187577.1:g.5779 55_588074del | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 577,955 | 588,074 |
| nssv16346002 | Remapped | Perfect | NC_000008.11:g.398 27319_39837438del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,827,319 | 39,837,438 |
| nssv16346002 | Submitted genomic | NC_000008.10:g.396 84838_39694957del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,684,838 | 39,694,957 |
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) |
|---|---|---|---|
| nssv16346002 | <0.001 | 3 | 16834 |