A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv911667



Internal ID6273594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39122923..39142329hg19UCSC Ensembl
Outerchr19:39119898..39143289hg19UCSC Ensembl
Innerchr19:43814763..43834169hg18UCSC Ensembl
Outerchr19:43811738..43835129hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1504247
SamplesSP52338
Known GenesACTN4, EIF3K
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv911667
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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