A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053432



Internal ID19142651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48397374..48418674hg38UCSC Ensembl
Innerchr13:48971510..48992810hg19UCSC Ensembl
Innerchr13:47869511..47890811hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3821301
hg1921301
hg1821301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1649n100
Supporting Variantsnssv3523445, nssv3523446, nssv3523444
Samples
Known GenesLPAR6, RB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053432
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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