A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762239



Internal ID18965050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178757211..178760612hg38UCSC Ensembl
chr3:178474999..178478400hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg383402
hg193402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078525
Supporting Variants
SamplesKWP1
Known GenesKCNMB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762239
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