A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007817



Internal ID19097036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238489360..238615294hg38UCSC Ensembl
Innerchr1:238652660..238778594hg19UCSC Ensembl
Innerchr1:236719283..236845217hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38125935
hg19125935
hg18125935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv593n100
Supporting Variantsnssv3705537
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007817
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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