A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032538



Internal ID19121760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12387671..12545643hg38UCSC Ensembl
Innerchr8:12245180..12403152hg19UCSC Ensembl
Innerchr8:12289551..12447523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38157973
hg19157973
hg18157973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7053n100
Supporting Variantsnssv3665737
Samples
Known GenesDEFB109P1, FAM66A, 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)nsv1032538
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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