A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723580



Internal ID21749901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27240078..27240078hg38UCSC Ensembl
chr2:27462946..27462946hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235499
Samples
Known GenesCAD
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)nsv5723580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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