A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689678



Internal ID18641273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86165139..86307247hg38UCSC Ensembl
Innerchr8:87177368..87319476hg19UCSC Ensembl
Innerchr8:87246484..87388592hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38142109
hg19142109
hg18142109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016177
Supporting Variants
Samples
Known GenesSLC7A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3689678
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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