nsv3079631
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,065
- Description:Absence of a L1PA2 mobile element insertion that is present in the reference
- Publication(s):Gardner et al. 2017
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: 166 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3079631 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 43,660,437 | 43,666,501 |
| nsv3079631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 43,887,576 | 43,893,640 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14054945 | line1 deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14054945 | Remapped | Perfect | NC_000002.12:g.436 60437_43666501del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,660,437 | 43,666,501 |
| nssv14054945 | Submitted genomic | NC_000002.11:g.438 87576_43893640del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 43,887,576 | 43,893,640 |