A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028527



Internal ID19117745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12465354..12693247hg38UCSC Ensembl
Innerchr8:12322863..12550756hg19UCSC Ensembl
Innerchr8:12367234..12595127hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38227894
hg19227894
hg18227894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7077n100
Supporting Variantsnssv3666944
Samples
Known GenesLOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028527
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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