A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000699



Internal ID16946965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44883286..44909585hg38UCSC Ensembl
Outerchr21:46303201..46329500hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3826300
hg1926300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953648
Supporting Variants
SamplesBILGI_BIOE
Known GenesITGB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000699
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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