A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056022



Internal ID18798553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70015881..70146310hg38UCSC Ensembl
Innerchr16:70049784..70180213hg19UCSC Ensembl
Innerchr16:68607285..68737714hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38130430
hg19130430
hg18130430
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3005n100
Supporting Variantsnssv3559500, nssv3559501
Samples
Known GenesMIR1972-1, 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)nsv1056022
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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