A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049864



Internal ID18792395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19600657..19882119hg38UCSC Ensembl
Innerchr13:20174797..20456259hg19UCSC Ensembl
Innerchr13:19072797..19354259hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38281463
hg19281463
hg18281463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1607n100
Supporting Variantsnssv3527570
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)nsv1049864
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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