A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117195



Internal ID19259838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31215040..31215133hg38UCSC Ensembl
Outerchr18:28795003..28795096hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979378
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117195
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