A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042134



Internal ID18784665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11068113..11175532hg38UCSC Ensembl
Innerchr12:11220712..11328131hg19UCSC Ensembl
Innerchr12:11111979..11219398hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38107420
hg19107420
hg18107420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1378n100
Supporting Variantsnssv3509761
Samples
Known GenesLOC100129361, PRH1-PRR4, TAS2R30, TAS2R43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042134
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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