A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214489



Internal ID22361132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96238584..96240207hg38UCSC Ensembl
chr12:96632362..96633985hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365699, nssv14365706, nssv14365705, nssv14365704, nssv14365700, nssv14365703, nssv14365701, nssv14365707, nssv14365702
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesELK3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214489
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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