A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703141



Internal ID15093107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21402757..21437854hg38UCSC Ensembl
Innerchr12:21555691..21590788hg19UCSC Ensembl
Innerchr12:21446958..21482055hg18UCSC Ensembl
Innerchr12:21446958..21482055hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3835098
hg1935098
hg1835098
hg1735098
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526789
Supporting Variants
Samples
Known GenesPYROXD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703141
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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