A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996139



Internal ID19191113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123510352..123514953hg38UCSC Ensembl
Outerchr12:123994899..123999500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150664
Supporting Variants
SamplesKWB1
Known GenesRILPL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996139
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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