A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027641



Internal ID19116860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12387671..12500660hg38UCSC Ensembl
Innerchr8:12245180..12358169hg19UCSC Ensembl
Innerchr8:12289551..12402540hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38112990
hg19112990
hg18112990
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3665724, nssv3665723
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027641
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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