A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548040



Internal ID18846321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20534503..20568633hg38UCSC Ensembl
Innerchr16:20545825..20579955hg19UCSC Ensembl
Innerchr16:20453326..20487456hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3834131
hg1934131
hg1834131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044983
Supporting Variants
Samples
Known GenesACSM2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3548040
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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