A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025957



Internal ID19115174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12504379hg38UCSC Ensembl
Innerchr8:12232269..12361888hg19UCSC Ensembl
Innerchr8:12276640..12406259hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38129620
hg19129620
hg18129620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7051n100
Supporting Variantsnssv3682578, nssv3754527, nssv3682576, nssv3682577, nssv3682579
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)nsv1025957
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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