A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999030



Internal ID19187827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15186392..15192893hg38UCSC Ensembl
Outerchr3:15227899..15234400hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg386502
hg196502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151847
Supporting Variants
SamplesKWB1
Known GenesCOL6A4P1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999030
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