A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013223



Internal ID19102441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3642115..4083675hg38UCSC Ensembl
Innerchr2:3689705..4131266hg19UCSC Ensembl
Innerchr2:3667580..4109141hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38441561
hg19441562
hg18441562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726662, nssv3726661
Samples
Known GenesALLC, COLEC11, LOC100505964
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013223
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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