A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954865



Internal ID17303738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:53493474..53495273hg38UCSC Ensembl
Outerchr3:53527501..53529300hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001394
SamplesBILGI_BIOE
Known GenesCACNA1D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954865
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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