A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047208



Internal ID19136427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:95283503..95383799hg38UCSC Ensembl
Innerchr13:95935757..96036053hg19UCSC Ensembl
Innerchr13:94733758..94834054hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38100297
hg19100297
hg18100297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1731n100
Supporting Variantsnssv3525497
Samples
Known GenesABCC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047208
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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