A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128772



Internal ID19270284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49773530..49777330hg38UCSC Ensembl
Outerchr18:47299900..47303700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1600n106
Supporting Variantsnssv3960686
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128772
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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