A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056988



Internal ID18799519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69954471..70105639hg38UCSC Ensembl
Innerchr16:69988374..70139542hg19UCSC Ensembl
Innerchr16:68545875..68697043hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38151169
hg19151169
hg18151169
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3000n100
Supporting Variantsnssv3559452, nssv3559450, nssv3559451, nssv3722728, nssv3559453, nssv3722727
Samples
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056988
Frequency
Sample Size29084
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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