A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054226



Internal ID18796757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19511073..19989089hg38UCSC Ensembl
Innerchr13:20085213..20563229hg19UCSC Ensembl
Innerchr13:18983213..19461229hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38478017
hg19478017
hg18478017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3527568
Samples
Known GenesMPHOSPH8, PSPC1, TPTE2, ZMYM2, ZMYM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054226
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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