A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695927



Internal ID15432579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47657673..47664008hg38UCSC Ensembl
Innerchr12:48051456..48057791hg19UCSC Ensembl
Innerchr12:46337723..46344058hg18UCSC Ensembl
Innerchr12:46337723..46344058hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg386336
hg196336
hg186336
hg176336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518487
Supporting Variants
Samples
Known GenesRPAP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695927
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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