A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030855



Internal ID18773386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12505127hg38UCSC Ensembl
Innerchr8:12162727..12362636hg19UCSC Ensembl
Innerchr8:12207096..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38199910
hg19199910
hg18199912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7032n100
Supporting Variantsnssv3682029
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, LOC100133267, 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)nsv1030855
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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