A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048631



Internal ID18791162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25200583..25225727hg38UCSC Ensembl
Innerchr12:25353517..25378661hg19UCSC Ensembl
Innerchr12:25244784..25269928hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3825145
hg1925145
hg1825145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518308
Samples
Known GenesKRAS, LYRM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048631
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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