A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001701



Internal ID17294653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27557034..27560533hg38UCSC Ensembl
Outerchr2:27779901..27783400hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953760
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001701
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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