A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990116



Internal ID18864133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45108716..45108780hg38UCSC Ensembl
Outerchr21:46528631..46528695hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114300
Supporting Variants
SamplesKWS1
Known GenesADARB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990116
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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