A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054266



Internal ID18796797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12062773..12134998hg38UCSC Ensembl
Innerchr10:12104772..12176997hg19UCSC Ensembl
Innerchr10:12144778..12217003hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3872226
hg1972226
hg1872226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv673n100
Supporting Variantsnssv3495692, nssv3486974, nssv3496233, nssv3500473
Samples
Known GenesDHTKD1, SEC61A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054266
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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