A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713604



Internal ID21739925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62036498..62036498hg38UCSC Ensembl
chr17:60113859..60113859hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224696, nssv17198423
Samples
Known GenesMED13
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)nsv5713604
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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