A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704576



Internal ID21730897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119135816..119135816hg38UCSC Ensembl
chr10:120895328..120895328hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189794
Samples
Known GenesFAM45A, FAM45B
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5704576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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