A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677457



Internal ID18975738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7032113..7153553hg38UCSC Ensembl
Innerchr8:6889635..7011075hg19UCSC Ensembl
Innerchr8:6877045..6998485hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38121441
hg19121441
hg18121441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019675
Supporting Variants
Samples
Known GenesDEFA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677457
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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