A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110718



Internal ID18920673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46259731..46259785hg38UCSC Ensembl
Outerchr18:43839694..43839748hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961126
SamplesKWS1
Known GenesC18orf25
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110718
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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