A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117289



Internal ID19258092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58043516..58043575hg38UCSC Ensembl
Outerchr20:56618572..56618631hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962000, nssv3983934
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117289
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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