A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118927



Internal ID19268461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63830447..63831847hg38UCSC Ensembl
Outerchr20:62461800..62463200hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2295n106
Supporting Variantsnssv3981710
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118927
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