A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039076



Internal ID18781607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19621796..19880721hg38UCSC Ensembl
Innerchr13:20195936..20454861hg19UCSC Ensembl
Innerchr13:19093936..19352861hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38258926
hg19258926
hg18258926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1607n100
Supporting Variantsnssv3527571
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)nsv1039076
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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