A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583078



Internal ID18881359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177682179..177721880hg38UCSC Ensembl
Innerchr2:178546907..178586608hg19UCSC Ensembl
Innerchr2:178255153..178294854hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3839702
hg1939702
hg1839702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005854
Supporting Variants
Samples
Known GenesPDE11A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583078
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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