A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199321



Internal ID21646830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23453150..23453150hg38UCSC Ensembl
chr2:23676021..23676021hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677900
Supporting Variants
Samples
Known GenesKLHL29
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17199321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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