A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063547



Internal ID18806078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45322368..45400204hg38UCSC Ensembl
Innerchr19:45825626..45903462hg19UCSC Ensembl
Innerchr19:50517466..50595302hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3877837
hg1977837
hg1877837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573795
Samples
Known GenesCKM, ERCC2, KLC3, PPP1R13L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063547
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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