A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150596



Internal ID19200418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132581355..132586556hg38UCSC Ensembl
Outerchr3:132300199..132305400hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385202
hg195202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996071
SamplesKWB1
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150596
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