A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687491



Internal ID15424143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7663155..7673709hg38UCSC Ensembl
Innerchr12:7815751..7826305hg19UCSC Ensembl
Innerchr12:7707018..7717572hg18UCSC Ensembl
Innerchr12:7707018..7717572hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810555
hg1910555
hg1810555
hg1710555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521241
Supporting Variants
Samples
Known GenesAPOBEC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687491
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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