A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007067



Internal ID22068698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17874824..18202617hg38UCSC Ensembl
Outerchr1:17871942..18204091hg38UCSC Ensembl
Innerchr1:18201318..18529111hg19UCSC Ensembl
Outerchr1:18198436..18530585hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38332150
hg19332150
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154634
Supporting Variants
Samples
Known GenesIGSF21
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007067
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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