A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549159



Internal ID18500754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31327141..31404150hg38UCSC Ensembl
Innerchr16:31338462..31415471hg19UCSC Ensembl
Innerchr16:31245963..31322972hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3877010
hg1977010
hg1877010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061980
Supporting Variants
Samples
Known GenesITGAD, ITGAM, ITGAX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3549159
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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