A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006395



Internal ID19095612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196775946..196839400hg38UCSC Ensembl
Innerchr3:196502817..196566271hg19UCSC Ensembl
Innerchr3:197987214..198050668hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3863455
hg1963455
hg1863455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5035n100
Supporting Variantsnssv3617000
Samples
Known GenesPAK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006395
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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