A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044618



Internal ID18787149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12059681..12137652hg38UCSC Ensembl
Innerchr10:12101680..12179651hg19UCSC Ensembl
Innerchr10:12141686..12219657hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3877972
hg1977972
hg1877972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv673n100
Supporting Variantsnssv3490121
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)nsv1044618
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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