A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030439



Internal ID19119658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12545432hg38UCSC Ensembl
Innerchr8:12260915..12402941hg19UCSC Ensembl
Innerchr8:12305286..12447312hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38142027
hg19142027
hg18142027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7053n100
Supporting Variantsnssv3760137, nssv3665945, nssv3665946
Samples
Known GenesFAM66A, 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)nsv1030439
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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