A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648129



Internal ID18946410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135823020..135866990hg38UCSC Ensembl
Innerchr5:135158709..135202679hg19UCSC Ensembl
Innerchr5:135186608..135230578hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3843971
hg1943971
hg1843971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020760
Supporting Variants
Samples
Known GenesSLC25A48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648129
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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