A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518315



Internal ID15098922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47755969..47759212hg38UCSC Ensembl
Innerchr12:48149752..48152995hg19UCSC Ensembl
Innerchr12:46436019..46439262hg18UCSC Ensembl
Innerchr12:46436019..46439262hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383244
hg193244
hg183244
hg173244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695746
Samples
Known GenesRAPGEF3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518315
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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