A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680505



Internal ID15417157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7855536..7916285hg38UCSC Ensembl
Innerchr12:8008132..8068881hg19UCSC Ensembl
Innerchr12:7899399..7960148hg18UCSC Ensembl
Innerchr12:7899399..7960148hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3860750
hg1960750
hg1860750
hg1760750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516107
Supporting Variants
Samples
Known GenesSLC2A14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680505
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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