A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996849



Internal ID18844523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37114099..37116500hg38UCSC Ensembl
Outerchr21:38486399..38488800hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152243
Supporting Variants
SamplesKWB1
Known GenesTTC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996849
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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