A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000079



Internal ID18842963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133967886..133968008hg38UCSC Ensembl
Outerchr3:133686730..133686852hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147308
Supporting Variants
SamplesKWB1
Known GenesSLCO2A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000079
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