A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003118



Internal ID17296070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218013078..218036177hg38UCSC Ensembl
Outerchr2:218877801..218900900hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3823100
hg1923100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954835
Supporting Variants
SamplesBILGI_BIOE
Known GenesRUFY4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003118
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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