A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120318



Internal ID18930496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11824982..11855178hg38UCSC Ensembl
Outerchr16:11918839..11949035hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3830197
hg1930197
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961886
SamplesKWS1
Known GenesBCAR4, RSL1D1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120318
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