A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961514



Internal ID18870525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44523417..44525217hg38UCSC Ensembl
Outerchr21:45943300..45945100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128845
Supporting Variants
SamplesKWS1
Known GenesTSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961514
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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