A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048888



Internal ID18791419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70245128..70281639hg38UCSC Ensembl
Innerchr12:70638908..70675419hg19UCSC Ensembl
Innerchr12:68925175..68961686hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3836512
hg1936512
hg1836512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524609
Samples
Known GenesCNOT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048888
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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