A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003073



Internal ID17296025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175332873..175338372hg38UCSC Ensembl
Outerchr2:176197601..176203100hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953520
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003073
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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