A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516944



Internal ID15444237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2878408..2878778hg38UCSC Ensembl
Innerchr12:2987574..2987944hg19UCSC Ensembl
Innerchr12:2857835..2858205hg18UCSC Ensembl
Innerchr12:2857835..2858205hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38371
hg19371
hg18371
hg17371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685037, nssv653479
Samples
Known GenesRHNO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516944
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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