A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013058



Internal ID19102276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117038427..117154952hg38UCSC Ensembl
Innerchr2:117796003..117912528hg19UCSC Ensembl
Innerchr2:117512473..117628998hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38116526
hg19116526
hg18116526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4057n100
Supporting Variantsnssv3580670
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013058
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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