A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118729



Internal ID19264905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43718298..43720798hg38UCSC Ensembl
Outerchr5:43718400..43720900hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959623
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118729
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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