A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194678



Internal ID21642187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21433603..21433603hg38UCSC Ensembl
chr14:21901762..21901762hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706915
Supporting Variants
Samples
Known GenesCHD8
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)nssv17194678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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