A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956193



Internal ID16958381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37187212..37187513hg38UCSC Ensembl
Outerchr20:35815615..35815916hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003173
SamplesBILGI_BIOE
Known GenesRPN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956193
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