A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725723



Internal ID21752044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61521158..61521158hg38UCSC Ensembl
chr2:61748293..61748293hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252279
Samples
Known GenesXPO1
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)nsv5725723
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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