A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683007



Internal ID21709328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57049039..57049039hg38UCSC Ensembl
chr6:56913837..56913837hg19UCSC Ensembl
Cytoband6p12.1
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 Variantsnssv17180558
Samples
Known GenesKIAA1586
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)nsv5683007
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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