A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129804



Internal ID18938685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42879478..42879559hg38UCSC Ensembl
Outerchr8:42734621..42734702hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964907
SamplesKWS1
Known GenesRNF170
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129804
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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