A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132885



Internal ID18934260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:80071425..80071486hg38UCSC Ensembl
Outerchr18:77831382..77831449hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3862
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987679
SamplesKWS1
Known GenesRBFADN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132885
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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