A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038173



Internal ID18780704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12059681..12123986hg38UCSC Ensembl
Innerchr10:12101680..12165985hg19UCSC Ensembl
Innerchr10:12141686..12205991hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3864306
hg1964306
hg1864306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv673n100
Supporting Variantsnssv3486991, nssv3491031
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)nsv1038173
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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