A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130148



Internal ID19264556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17875494..17875586hg38UCSC Ensembl
Outerchr8:17733003..17733095hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3787n106
Supporting Variantsnssv3966057
SamplesKWS2
Known GenesFGL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130148
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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