A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116931



Internal ID18910018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44795027..44795094hg38UCSC Ensembl
Outerchr21:46214942..46215009hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955753
SamplesKWS1
Known GenesUBE2G2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116931
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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