A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549970



Internal ID16337379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12058736..12123248hg38UCSC Ensembl
Innerchr10:12100735..12165247hg19UCSC Ensembl
Innerchr10:12140741..12205253hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3864513
hg1964513
hg1864513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv956n54
Supporting Variantsnssv1174121
SamplesHGDP00905
Known GenesDHTKD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549970
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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