A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025287



Internal ID19114505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12389636..12454117hg38UCSC Ensembl
Innerchr8:12247145..12311626hg19UCSC Ensembl
Innerchr8:12291516..12355997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3864482
hg1964482
hg1864482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7057n100
Supporting Variantsnssv3665748, nssv3665749, nssv3665747, nssv3665746, nssv3760097
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025287
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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