A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003236



Internal ID18745767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130720375..131226955hg38UCSC Ensembl
Innerchr2:131477948..131984528hg19UCSC Ensembl
Innerchr2:131194418..131700998hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38506581
hg19506581
hg18506581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4074n100
Supporting Variantsnssv3580841
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, PLEKHB2, POTEE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003236
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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