A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010275



Internal ID19099493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196775946..196829270hg38UCSC Ensembl
Innerchr3:196502817..196556141hg19UCSC Ensembl
Innerchr3:197987214..198040538hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3853325
hg1953325
hg1853325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5035n100
Supporting Variantsnssv3737877
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)nsv1010275
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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