A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032381



Internal ID19121603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12453163hg38UCSC Ensembl
Innerchr8:12232269..12310672hg19UCSC Ensembl
Innerchr8:12276640..12355043hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3878404
hg1978404
hg1878404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7049n100
Supporting Variantsnssv3682478
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032381
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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