A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001397



Internal ID16947663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:54120974..54123673hg38UCSC Ensembl
Outerchr3:54155001..54157700hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954868
Supporting Variants
SamplesBILGI_BIOE
Known GenesCACNA2D3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001397
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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