A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022826



Internal ID19112044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12454117hg38UCSC Ensembl
Innerchr8:12232269..12311626hg19UCSC Ensembl
Innerchr8:12276640..12355997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879358
hg1979358
hg1879358
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7047n100
Supporting Variantsnssv3754492, nssv3682495, nssv3754499, nssv3682503, nssv3682504, nssv3754501, nssv3754493, nssv3682480, nssv3682498, nssv3682483, nssv3682481, nssv3682505, nssv3682490, nssv3754503, nssv3682489, nssv3682487, nssv3682502, nssv3682496, nssv3682497, nssv3682492, nssv3754496, nssv3682500, nssv3682501, nssv3682486, nssv3754495, nssv3682494, nssv3682484, nssv3682485, nssv3682482, nssv3682491, nssv3754498, nssv3754500, nssv3682488, nssv3754504, nssv3754502, nssv3754497, nssv3682493, nssv3754494, nssv3682499
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)nsv1022826
Frequency
Sample Size11257
Observed Gain28
Observed Loss11
Observed Complex0
Frequencyn/a


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