A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117811



Internal ID18928732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23317908..23317968hg38UCSC Ensembl
Outerchr8:23175421..23175481hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957968
SamplesKWS1
Known GenesLOXL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117811
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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