A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762134



Internal ID18962597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4978714..4979615hg38UCSC Ensembl
chr3:5020399..5021300hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1073199
Supporting Variants
SamplesKWP1
Known GenesBHLHE40
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762134
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer