A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067017



Internal ID18809548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40680087..40725346hg38UCSC Ensembl
Innerchr19:41185992..41231251hg19UCSC Ensembl
Innerchr19:45877832..45923091hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3845260
hg1945260
hg1845260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724538
Samples
Known GenesADCK4, ITPKC, NUMBL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067017
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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