A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979993



Internal ID19220897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22538862..22538953hg38UCSC Ensembl
Outerchr20:22519500..22519591hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117418
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979993
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