A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028538



Internal ID19117756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12545532hg38UCSC Ensembl
Innerchr8:12232269..12403041hg19UCSC Ensembl
Innerchr8:12276640..12447412hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38170773
hg19170773
hg18170773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7053n100
Supporting Variantsnssv3682653
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028538
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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