A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980005



Internal ID19220780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:33093625..33093703hg38UCSC Ensembl
Outerchr20:31681431..31681509hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117431
Supporting Variants
SamplesKWS1
Known GenesBPIFB4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980005
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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