A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000707



Internal ID17293659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45892187..45924186hg38UCSC Ensembl
Outerchr21:47312101..47344100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3832000
hg1932000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953656
Supporting Variants
SamplesBILGI_BIOE
Known GenesPCBP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000707
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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