A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653479



Internal ID15390131
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516944
Supporting Variants
Samples
Known GenesRHNO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653479
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