A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17214964



Internal ID21662473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210081815..210081815hg38UCSC Ensembl
chr2:210946539..210946539hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689417
Supporting Variants
Samples
Known GenesKANSL1L
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)nssv17214964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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