A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010801



Internal ID19100018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196775946..196843236hg38UCSC Ensembl
Innerchr3:196502817..196570107hg19UCSC Ensembl
Innerchr3:197987214..198054504hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3867291
hg1967291
hg1867291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5035n100
Supporting Variantsnssv3617001
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)nsv1010801
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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