A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3527571



Internal ID18479166
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 StatusS
Merged Variantsnsv1039076
Supporting Variants
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)nssv3527571
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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