A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001350



Internal ID19189902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28418735..28421936hg38UCSC Ensembl
Outerchr18:25998699..26001900hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153433
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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