A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708747



Internal ID18660342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10908379..11351157hg38UCSC Ensembl
Innerchr12:11060978..11504091hg19UCSC Ensembl
Innerchr12:10952245..11395358hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38442779
hg19443114
hg18443114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038277
Supporting Variants
Samples
Known GenesLOC100129361, PRB3, PRB4, PRH1-PRR4, PRH2, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3708747
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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