A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001748



Internal ID16948014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70012769..70019568hg38UCSC Ensembl
Outerchr2:70239901..70246700hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953143
Supporting Variants
SamplesBILGI_BIOE
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001748
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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