A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680502



Internal ID15417154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63070597..63080046hg38UCSC Ensembl
Innerchr11:62838069..62847518hg19UCSC Ensembl
Innerchr11:62594645..62604094hg18UCSC Ensembl
Innerchr11:62594645..62604094hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg389450
hg199450
hg189450
hg179450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517447
Supporting Variants
Samples
Known GenesSLC22A24
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680502
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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