A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003415



Internal ID19189119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:49396002..49402003hg38UCSC Ensembl
Outerchr15:49688199..49694200hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154137
Supporting Variants
SamplesKWB1
Known GenesFAM227B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003415
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