A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954478



Internal ID16956665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46657411..46717710hg38UCSC Ensembl
Outerchr3:46698901..46759200hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3860300
hg1960300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001374
SamplesBILGI_BIOE
Known GenesALS2CL, PRSS50, TMIE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954478
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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