A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977738



Internal ID19227531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181328999..181334499hg38UCSC Ensembl
Outerchr5:180756000..180761500hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124932
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977738
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