A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984039



Internal ID18894593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:436176..436251hg38UCSC Ensembl
Outerchr5:436291..436366hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125832
Supporting Variants
SamplesKWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984039
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