A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006389



Internal ID19095606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91460974..91730225hg38UCSC Ensembl
Innerchr2:91653350..91918251hg19UCSC Ensembl
Innerchr2:91017077..91281978hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38269252
hg19264902
hg18264902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3992n100
Supporting Variantsnssv3579479
Samples
Known GenesLOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006389
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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