A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552372



Internal ID325738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83126067..83126118hg38UCSC Ensembl
chr5:82421886..82421937hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968672
Samples
Known GenesXRCC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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