A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057267



Internal ID18799798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70102965..70200621hg38UCSC Ensembl
Innerchr16:70136868..70234524hg19UCSC Ensembl
Innerchr16:68694369..68792025hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3897657
hg1997657
hg1897657
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3011n100
Supporting Variantsnssv3722745, nssv3559529
Samples
Known GenesCLEC18C, PDPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057267
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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