A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046396



Internal ID18788927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12059681..12109949hg38UCSC Ensembl
Innerchr10:12101680..12151948hg19UCSC Ensembl
Innerchr10:12141686..12191954hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3850269
hg1950269
hg1850269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3495340
Samples
Known GenesDHTKD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046396
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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