A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024731



Internal ID19113948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12720569hg38UCSC Ensembl
Innerchr8:12232269..12578078hg19UCSC Ensembl
Innerchr8:12276640..12622449hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38345810
hg19345810
hg18345810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7040n100
Supporting Variantsnssv3755702
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)nsv1024731
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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