A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030656



Internal ID18773187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305261..12389965hg38UCSC Ensembl
Innerchr8:12162770..12247474hg19UCSC Ensembl
Innerchr8:12207139..12291845hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3884705
hg1984705
hg1884707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7030n100
Supporting Variantsnssv3682042
Samples
Known GenesDEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030656
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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