A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969459



Internal ID19236468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44810159..44810559hg38UCSC Ensembl
Outerchr20:43438800..43439200hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122033
Supporting Variants
SamplesKWS2
Known GenesRIMS4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969459
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