A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011939



Internal ID18754475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131095274..131153308hg38UCSC Ensembl
Innerchr2:131852847..131910881hg19UCSC Ensembl
Innerchr2:131569317..131627351hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3858035
hg1958035
hg1858035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4076n100
Supporting Variantsnssv3580850
Samples
Known GenesPLEKHB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011939
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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