A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999880



Internal ID19189844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133625889..133626006hg38UCSC Ensembl
Outerchr5:132961580..132961697hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152703
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999880
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