A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065057



Internal ID18807588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70015881..70212505hg38UCSC Ensembl
Innerchr16:70049784..70246408hg19UCSC Ensembl
Innerchr16:68607285..68803909hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38196625
hg19196625
hg18196625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3006n100
Supporting Variantsnssv3559511, nssv3722743
Samples
Known GenesCLEC18C, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065057
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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