A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017568



Internal ID19106785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12389636..12468589hg38UCSC Ensembl
Innerchr8:12247145..12326098hg19UCSC Ensembl
Innerchr8:12291516..12370469hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3878954
hg1978954
hg1878954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7048n100
Supporting Variantsnssv3665750
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)nsv1017568
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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