A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117139



Internal ID18937559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31713740..31714076hg38UCSC Ensembl
Outerchr8:31571256..31571592hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3803n106
Supporting Variantsnssv3956796
SamplesKWS1
Known GenesNRG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117139
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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