A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678984



Internal ID15415636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7800493..7970710hg38UCSC Ensembl
Innerchr12:7953089..8123306hg19UCSC Ensembl
Innerchr12:7844356..8014573hg18UCSC Ensembl
Innerchr12:7844356..8014573hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38170218
hg19170218
hg18170218
hg17170218
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)nssv678984
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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