A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115646



Internal ID19284322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:170567211..170570711hg38UCSC Ensembl
Outerchr3:170285000..170288500hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977455
SamplesKWS2
Known GenesSLC7A14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115646
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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