A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066204



Internal ID18808735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45254728..45870451hg38UCSC Ensembl
Innerchr22:45650609..46266331hg19UCSC Ensembl
Innerchr22:44029273..44644995hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38615724
hg19615723
hg18615723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737482
Samples
Known GenesATXN10, FAM118A, FBLN1, MIR4762, RIBC2, SMC1B, UPK3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066204
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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