A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057230



Internal ID19146449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81170818..81265904hg38UCSC Ensembl
Innerchr16:81204423..81299509hg19UCSC Ensembl
Innerchr16:79761924..79857010hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3895087
hg1995087
hg1895087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3048n100
Supporting Variantsnssv3559827
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)nsv1057230
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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