A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132882



Internal ID18913530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:44721937..44722034hg38UCSC Ensembl
Outerchr18:42301902..42301999hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987676
SamplesKWS1
Known GenesSETBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132882
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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