A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011378



Internal ID18753912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127084354..127262970hg38UCSC Ensembl
Innerchr2:127841930..128020546hg19UCSC Ensembl
Innerchr2:127558400..127737016hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38178617
hg19178617
hg18178617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4066n100
Supporting Variantsnssv3729223
Samples
Known GenesBIN1, CYP27C1, ERCC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011378
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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