A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003040



Internal ID16949306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:148648732..148661631hg38UCSC Ensembl
Outerchr2:149406301..149419200hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3812900
hg1912900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955262
Supporting Variants
SamplesBILGI_BIOE
Known GenesEPC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003040
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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