A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993288



Internal ID18883752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79569743..79569847hg38UCSC Ensembl
Outerchr18:77329743..77329847hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141782
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993288
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer