A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027017



Internal ID19116236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12532643hg38UCSC Ensembl
Innerchr8:12260915..12390152hg19UCSC Ensembl
Innerchr8:12305286..12434523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38129238
hg19129238
hg18129238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7070n100
Supporting Variantsnssv3665928, nssv3665929, nssv3665934, nssv3665925, nssv3665913, nssv3665919, nssv3665936, nssv3665920, nssv3665931, nssv3665914, nssv3665923, nssv3665915, nssv3665930, nssv3665932, nssv3665938, nssv3665941, nssv3665922, nssv3665942, nssv3665937, nssv3760136, nssv3665944, nssv3665918, nssv3665940, nssv3665927, nssv3665935, nssv3665943, nssv3665917, nssv3665921, nssv3665939, nssv3665933, nssv3665916, nssv3760135, nssv3665926, nssv3665924
Samples
Known GenesFAM66A, 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)nsv1027017
Frequency
Sample Size11257
Observed Gain13
Observed Loss21
Observed Complex0
Frequencyn/a


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