A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3017n100



Internal ID20154633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72040933..72757730hg38UCSC Ensembl
chr16:72074832..72791629hg19UCSC Ensembl
chr16:70632333..71349130hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38716798
hg19716798
hg18716798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060804, nsv1060983
Samples
Known GenesDHX38, HP, HPR, PMFBP1, TXNL4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3017n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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