A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047399



Internal ID18789930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20378305..20522307hg38UCSC Ensembl
Innerchr16:20389627..20533629hg19UCSC Ensembl
Innerchr16:20297128..20441130hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38144003
hg19144003
hg18144003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3547113
Samples
Known GenesACSM2A, ACSM5, PDILT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047399
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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