A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000734



Internal ID18840218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:307236..307290hg38UCSC Ensembl
Outerchr5:307351..307405hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149431
Supporting Variants
SamplesKWB1
Known GenesAHRR, PDCD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000734
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