A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3525538



Internal ID18477133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:102768928..102842048hg38UCSC Ensembl
Innerchr13:103421278..103494398hg19UCSC Ensembl
Innerchr13:102219279..102292399hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3873121
hg1973121
hg1873121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048497
Supporting Variants
Samples
Known GenesBIVM, BIVM-ERCC5, KDELC1, TEX30
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3525538
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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