A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691326



Internal ID15427978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844294..7992065hg38UCSC Ensembl
Innerchr12:7996890..8144661hg19UCSC Ensembl
Innerchr12:7888157..8035928hg18UCSC Ensembl
Innerchr12:7888157..8035928hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38147772
hg19147772
hg18147772
hg17147772
Variant TypeCNV gain
Copy Number
Allele State
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)nssv691326
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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