A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997334



Internal ID16943600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93398225..93408024hg38UCSC Ensembl
Outerchr12:93792001..93801800hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg389800
hg199800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952465
Supporting Variants
SamplesBILGI_BIOE
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997334
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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