nsv5426296
- 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:316,001
- 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: 1221 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1101 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 604 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5426296 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 145,502,587 | 145,818,587 | ||
| nsv5426296 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,616,505 | 145,833,118 |
| nsv5426296 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,318,000 | 2,634,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16890065 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16890065 | Submitted genomic | NC_000001.11:g.145 502587_145818587du p | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,502,587 | 145,818,587 | ||
| nssv16890065 | Remapped | Perfect | NW_003871055.3:g.2 318000_2634000dup | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,318,000 | 2,634,000 |
| nssv16890065 | Remapped | Pass | NC_000001.10:g.145 616505_145833118du p | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,616,505 | 145,833,118 |
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) |
|---|---|---|---|
| nssv16890065 | <0.001 | 6 | 6404 |