nsv6641566
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:252,751
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: 1354 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1290 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 481 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6641566 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 145,796,670 | 146,049,420 | ||
| nsv6641566 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,385,582 | 145,638,408 |
| nsv6641566 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,612,083 | 2,864,833 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18573540 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18573540 | Submitted genomic | NC_000001.11:g.145 796670_146049420du p | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,796,670 | 146,049,420 | ||
| nssv18573540 | Remapped | Perfect | NW_003871055.3:g.2 612083_2864833dup | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,612,083 | 2,864,833 |
| nssv18573540 | Remapped | Good | NC_000001.10:g.145 385582_145638408du p | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,385,582 | 145,638,408 |
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) |
|---|---|---|---|
| nssv18573540 | 4e-06 | 1 | 274432 |