A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022828



Internal ID19112046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376119..12454117hg38UCSC Ensembl
Innerchr8:12233628..12311626hg19UCSC Ensembl
Innerchr8:12277999..12355997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3877999
hg1977999
hg1877999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7057n100
Supporting Variantsnssv3663728, nssv3663727, nssv3755764, nssv3663729, nssv3663726
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)nsv1022828
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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