A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803327



Internal ID16097283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119821875..119982866hg38UCSC Ensembl
Innerchr12:120259679..120420670hg19UCSC Ensembl
Innerchr12:118744062..118905053hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38160992
hg19160992
hg18160992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560397
Supporting Variants
Samples
Known GenesCIT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803327
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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