A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560230



Internal ID22429026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70395155..70395155hg38UCSC Ensembl
chr12:70788935..70788935hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361955, nssv14361954
SamplesNA19238, NA19240
Known GenesKCNMB4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560230
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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