A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912146



Internal ID6274073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45799442..45856144hg19UCSC Ensembl
Outerchr19:45788612..45862515hg19UCSC Ensembl
Innerchr19:50491282..50547984hg18UCSC Ensembl
Outerchr19:50480452..50554355hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1586084
SamplesIS37646
Known GenesCKM, ERCC2, KLC3, MARK4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912146
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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