A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148675



Internal ID18852677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15355642..15375343hg38UCSC Ensembl
Outerchr16:15449499..15469200hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3819702
hg1919702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997461
SamplesKWB1
Known GenesNPIPA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148675
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