A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020973



Internal ID19110191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376777..12447135hg38UCSC Ensembl
Innerchr8:12234286..12304644hg19UCSC Ensembl
Innerchr8:12278657..12349015hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3870359
hg1970359
hg1870359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7057n100
Supporting Variantsnssv3663843
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)nsv1020973
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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