A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036305



Internal ID18778836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19579153..19933817hg38UCSC Ensembl
Innerchr13:20153293..20507957hg19UCSC Ensembl
Innerchr13:19051293..19405957hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38354665
hg19354665
hg18354665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1607n100
Supporting Variantsnssv3527569
Samples
Known GenesMPHOSPH8, PSPC1, ZMYM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036305
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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