A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023138



Internal ID19112355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12624526hg38UCSC Ensembl
Innerchr8:12260915..12482035hg19UCSC Ensembl
Innerchr8:12305286..12526406hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38221121
hg19221121
hg18221121
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7065n100
Supporting Variantsnssv3666875, nssv3666876, nssv3666874, nssv3760173, nssv3666877
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023138
Frequency
Sample Size11257
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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