A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003290



Internal ID16949556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38528439..38528731hg38UCSC Ensembl
Outerchr21:39900363..39900655hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv956728
Supporting Variants
SamplesBILGI_BIOE
Known GenesERG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003290
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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