A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117344



Internal ID19251948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:76924926..76936732hg38UCSC Ensembl
Outerchr3:76974077..76985883hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3811807
hg1911807
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979536
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117344
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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