nsv4864652
- 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:52,055
- 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: 569 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4864652 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,052,663 | 41,104,423 |
| nsv4864652 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 202,056 | 254,110 |
| nsv4864652 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,208,915 | 39,260,675 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16389254 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16389254 | Remapped | Good | NW_003871091.1:g.2 02056_254110dup | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 202,056 | 254,110 |
| nssv16389254 | Remapped | Perfect | NC_000017.11:g.410 52663_41104423dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,052,663 | 41,104,423 |
| nssv16389254 | Submitted genomic | NC_000017.10:g.392 08915_39260675dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,208,915 | 39,260,675 |
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) |
|---|---|---|---|
| nssv16389254 | <0.001 | 3 | 16834 |