A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133249



Internal ID19258534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46103329..46103888hg38UCSC Ensembl
Outerchr18:43683295..43683854hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988140
SamplesKWS1
Known GenesATP5A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133249
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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