nsv6141214
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,501
- Publication(s):Byrska-Bishop et al. 2022
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: 115 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6141214 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 26,666,500 | 26,672,000 | ||
| nsv6141214 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000006.11 | Chr6 | 26,666,728 | 26,672,228 |
| nsv6141214 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 80,886 | 86,386 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16982397 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16982397 | Submitted genomic | NC_000006.12:g.266 66500_26672000dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 26,666,500 | 26,672,000 | ||
| nssv16982397 | Remapped | Perfect | NW_004070866.1:g.8 0886_86386dup | GRCh37.p13 | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 80,886 | 86,386 |
| nssv16982397 | Remapped | Perfect | NC_000006.11:g.266 66728_26672228dup | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 26,666,728 | 26,672,228 |
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) |
|---|---|---|---|
| nssv16982397 | 0.06 | 159 | 2656 |