A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726069



Internal ID21752390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45882619..45882619hg38UCSC Ensembl
chr11:45904170..45904170hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235818
Samples
Known GenesCRY2
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)nsv5726069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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