A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245514



Internal ID21693023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176548199..176548199hg38UCSC Ensembl
chr5:175975200..175975200hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727055
Supporting Variants
Samples
Known GenesCDHR2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17245514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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