A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000696



Internal ID16946962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44156018..44264017hg38UCSC Ensembl
Outerchr21:45575901..45683900hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38108000
hg19108000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953645
Supporting Variants
SamplesBILGI_BIOE
Known GenesDNMT3L, ICOSLG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000696
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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