A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953138



Internal ID17302012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:68225369..68251568hg38UCSC Ensembl
Outerchr2:68452501..68478700hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3826200
hg1926200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001742
SamplesBILGI_BIOE
Known GenesPPP3R1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953138
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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