A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717365



Internal ID21743686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68055143..68055143hg38UCSC Ensembl
chr2:68282275..68282275hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251620, nssv17239236
Samples
Known GenesC1D
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)nsv5717365
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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