A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724557



Internal ID21750878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120936414..120936414hg38UCSC Ensembl
chr10:122695926..122695926hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247537
Samples
Known GenesMIR5694
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)nsv5724557
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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