A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678257



Internal ID15414909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844294..7970710hg38UCSC Ensembl
Innerchr12:7996890..8123306hg19UCSC Ensembl
Innerchr12:7888157..8014573hg18UCSC Ensembl
Innerchr12:7888157..8014573hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38126417
hg19126417
hg18126417
hg17126417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516107
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678257
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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