A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979832



Internal ID19241932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179962014..179962070hg38UCSC Ensembl
Outerchr3:179679802..179679858hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143066
Supporting Variants
SamplesKWS2
Known GenesPEX5L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979832
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