A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147937



Internal ID18851662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43600018..43605719hg38UCSC Ensembl
Outerchr21:45019899..45025600hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385702
hg195702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001447
SamplesKWB1
Known GenesHSF2BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147937
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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