A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017482



Internal ID19106699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12585534hg38UCSC Ensembl
Innerchr8:12239823..12443043hg19UCSC Ensembl
Innerchr8:12284194..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38203221
hg19203221
hg18203221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7055n100
Supporting Variantsnssv3664806, nssv3664787, nssv3664794, nssv3760055, nssv3664803, nssv3664773, nssv3664782, nssv3664797, nssv3664804, nssv3664776, nssv3760050, nssv3664774, nssv3664808, nssv3664783, nssv3664780, nssv3664785, nssv3664805, nssv3760052, nssv3664809, nssv3664812, nssv3664795, nssv3664784, nssv3664778, nssv3664789, nssv3664810, nssv3664788, nssv3664775, nssv3760048, nssv3664790, nssv3664807, nssv3664786, nssv3664798, nssv3664772, nssv3664792, nssv3664781, nssv3664793, nssv3664779, nssv3760051, nssv3664799, nssv3664811, nssv3760056, nssv3760049, nssv3760054, nssv3664802, nssv3664813, nssv3664791, nssv3760053, nssv3760057, nssv3664814, nssv3664777, nssv3664800, nssv3664796, nssv3664801
Samples
Known GenesDEFB109P1, FAM66A, 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)nsv1017482
Frequency
Sample Size11257
Observed Gain47
Observed Loss6
Observed Complex0
Frequencyn/a


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