A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125731



Internal ID18912883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63731348..63731615hg38UCSC Ensembl
Outerchr20:62362700..62362967hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2293n106
Supporting Variantsnssv3983938
SamplesKWS2
Known GenesZGPAT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125731
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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