A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999866



Internal ID16946132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49555044..49938043hg38UCSC Ensembl
Outerchr19:50058301..50441300hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38383000
hg19383000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953600
Supporting Variants
SamplesBILGI_BIOE
Known GenesADM5, AKT1S1, AP2A1, ATF5, BCL2L12, CPT1C, FUZ, IL4I1, IRF3, MED25, MIR4749, MIR4750, MIR4751, MIR5088, MIR6799, MIR6800, NOSIP, NUP62, PNKP, PRMT1, PRR12, PRRG2, PTOV1, PTOV1-AS1, RRAS, SCAF1, TBC1D17, TSKS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999866
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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