A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110213



Internal ID19256725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93399224..93401824hg38UCSC Ensembl
Outerchr12:93793000..93795600hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv851n106
Supporting Variantsnssv3959482
SamplesKWS1
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110213
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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