A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2799n100



Internal ID20154415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20544152..20731189hg38UCSC Ensembl
chr16:20555474..20742511hg19UCSC Ensembl
chr16:20462975..20650012hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38187038
hg19187038
hg18187038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053656, nsv1035486
Samples
Known GenesACSM1, ACSM2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2799n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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