A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063482



Internal ID18806013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81173772..81270154hg38UCSC Ensembl
Innerchr16:81207377..81303759hg19UCSC Ensembl
Innerchr16:79764878..79861260hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3896383
hg1996383
hg1896383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3048n100
Supporting Variantsnssv3559830
Samples
Known GenesBCMO1, PKD1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063482
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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