A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953598



Internal ID16955785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48957644..49085143hg38UCSC Ensembl
Outerchr19:49460901..49588400hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38127500
hg19127500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999864
SamplesBILGI_BIOE
Known GenesBAX, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, FTL, GYS1, KCNA7, LHB, LOC101059948, MIR6798, NTF4, RUVBL2, SNAR-G1, SNAR-G2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953598
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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