A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233936



Internal ID21681445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42173875..42173875hg38UCSC Ensembl
chr17:40325893..40325893hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726279
Supporting Variants
Samples
Known GenesKCNH4
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)nssv17233936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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