A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240916



Internal ID21688425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61122658..61122658hg38UCSC Ensembl
chr11:60890130..60890130hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715256
Supporting Variants
Samples
Known GenesCD5
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)nssv17240916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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