A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028232



Internal ID18770763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26005221..26319528hg38UCSC Ensembl
Innerchr6:26005449..26319756hg19UCSC Ensembl
Innerchr6:26113428..26427735hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38314308
hg19314308
hg18314308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5926n100
Supporting Variantsnssv3654842
Samples
Known GenesHFE, HIST1H1A, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1T, HIST1H2AB, HIST1H2AC, HIST1H2AD, HIST1H2AE, HIST1H2BB, HIST1H2BC, HIST1H2BD, HIST1H2BE, HIST1H2BF, HIST1H2BG, HIST1H2BH, HIST1H2BI, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H4A, HIST1H4B, HIST1H4C, HIST1H4D, HIST1H4E, HIST1H4F, HIST1H4G, HIST1H4H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028232
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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