A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045018



Internal ID18787549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18545386..18768126hg38UCSC Ensembl
Innerchr16:18556708..18779448hg19UCSC Ensembl
Innerchr16:18464209..18686949hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38222741
hg19222741
hg18222741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2785n100
Supporting Variantsnssv3542754
Samples
Known GenesABCC6P1, NOMO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045018
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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