A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999865



Internal ID16946131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49386444..49506743hg38UCSC Ensembl
Outerchr19:49889701..50010000hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38120300
hg19120300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953599
Supporting Variants
SamplesBILGI_BIOE
Known GenesALDH16A1, CCDC155, FLT3LG, LOC100507003, MIR150, PIH1D1, PTH2, RPL13A, RPL13AP5, RPS11, SLC17A7, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999865
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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