A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053125



Internal ID18795656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12059681..12121846hg38UCSC Ensembl
Innerchr10:12101680..12163845hg19UCSC Ensembl
Innerchr10:12141686..12203851hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3862166
hg1962166
hg1862166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv673n100
Supporting Variantsnssv3502388
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)nsv1053125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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