A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143094



Internal ID19261562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:67398494..67401070hg38UCSC Ensembl
Outerchr4:68264212..68266788hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2818n106
Supporting Variantsnssv3979860
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143094
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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