A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191761



Internal ID21639270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78194154..78194154hg38UCSC Ensembl
chr11:77905200..77905200hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711763
Supporting Variants
Samples
Known GenesUSP35
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)nssv17191761
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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