A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145904



Internal ID19196018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29053578..29059279hg38UCSC Ensembl
Outerchr16:29064899..29070600hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385702
hg195702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997268
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1145904
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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