A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117349



Internal ID19284563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:96004626..96004684hg38UCSC Ensembl
Outerchr3:95723470..95723528hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979541
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117349
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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