A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999558



Internal ID16945824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63942829..64352128hg38UCSC Ensembl
Outerchr11:63710301..64119600hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38409300
hg19409300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951010
Supporting Variants
SamplesBILGI_BIOE
Known GenesBAD, CCDC88B, COX8A, DNAJC4, ESRRA, FERMT3, FKBP2, FLRT1, GPR137, KCNK4, MACROD1, MIR7155, NAA40, NUDT22, OTUB1, PLCB3, PPP1R14B, PRDX5, STIP1, TEX40, TRMT112, TRPT1, VEGFB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999558
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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