A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518693



Internal ID15099300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17672282..17674132hg38UCSC Ensembl
Innerchr1:17998777..18000627hg19UCSC Ensembl
Innerchr1:17871364..17873214hg18UCSC Ensembl
Innerchr1:17744083..17745933hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381851
hg191851
hg181851
hg171851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696144
Samples
Known GenesARHGEF10L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518693
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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