A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199480



Internal ID21646989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6089251..6089251hg38UCSC Ensembl
chr17:5992571..5992571hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713615
Supporting Variants
Samples
Known GenesWSCD1
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)nssv17199480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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