nsv4854685
- 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:165
- 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: 207 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4854685 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 48,705,092 | 48,705,256 |
| nsv4854685 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171814.1 | Chr18|NW_0 13171814.1 | 194,362 | 194,526 |
| nsv4854685 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 46,231,463 | 46,231,627 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16387251 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16387251 | Remapped | Perfect | NW_013171814.1:g.1 94362_194526dup | GRCh38.p12 | Second Pass | NW_013171814.1 | Chr18|NW_0 13171814.1 | 194,362 | 194,526 |
| nssv16387251 | Remapped | Perfect | NC_000018.10:g.487 05092_48705256dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 48,705,092 | 48,705,256 |
| nssv16387251 | Submitted genomic | NC_000018.9:g.4623 1463_46231627dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 46,231,463 | 46,231,627 |
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) |
|---|---|---|---|
| nssv16387251 | <0.001 | 1 | 16834 |