A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027586



Internal ID19116805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12389636..12585534hg38UCSC Ensembl
Innerchr8:12247145..12443043hg19UCSC Ensembl
Innerchr8:12291516..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38195899
hg19195899
hg18195899
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7055n100
Supporting Variantsnssv3760100, nssv3665764, nssv3665770, nssv3665769, nssv3665765, nssv3665767, nssv3665766, nssv3665768
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027586
Frequency
Sample Size11257
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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