nsv6455565
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,571
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: 320 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 322 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6455565 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 133,398,533 | 133,445,103 | ||
| nsv6455565 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000009.11 | Chr9 | 136,263,660 | 136,310,224 |
| nsv6455565 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 224,627 | 271,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18235417 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18235417 | Submitted genomic | NC_000009.12:g.133 398533_133445103du p | GRCh38 (hg38) | NC_000009.12 | Chr9 | 133,398,533 | 133,445,103 | ||
| nssv18235417 | Remapped | Perfect | NW_003315925.1:g.2 24627_271197dup | GRCh37.p13 | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 224,627 | 271,197 |
| nssv18235417 | Remapped | Good | NC_000009.11:g.136 263660_136310224du p | GRCh37.p13 | Second Pass | NC_000009.11 | Chr9 | 136,263,660 | 136,310,224 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18235417 | <0.001 | 1 | 39282 |