nsv4256123
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:132
- Publication(s):gnomAD_Structural_Variants
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: 16 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4256123 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,874,599 | 40,874,730 |
| nsv4256123 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 23,867 | 23,998 |
| nsv4256123 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 39,030,851 | 39,030,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15834390 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15834390 | Remapped | Perfect | NW_003871091.1:g.2 3867_23998del | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 23,867 | 23,998 |
| nssv15834390 | Remapped | Perfect | NC_000017.11:g.408 74599_40874730del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,874,599 | 40,874,730 |
| nssv15834390 | Submitted genomic | NC_000017.10:g.390 30851_39030982del | GRCh37.p13 | NC_000017.10 | Chr17 | 39,030,851 | 39,030,982 |
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) |
|---|---|---|---|
| nssv15834390 | <0.001 | 3 | 21692 |