A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694412



Internal ID15084378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27645211..27647513hg38UCSC Ensembl
Innerchr12:27798144..27800446hg19UCSC Ensembl
Innerchr12:27689411..27691713hg18UCSC Ensembl
Innerchr12:27689411..27691713hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382303
hg192303
hg182303
hg172303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521002
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694412
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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