A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803343



Internal ID15750613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119988665..119990664hg38UCSC Ensembl
Innerchr12:120426469..120428468hg19UCSC Ensembl
Innerchr12:118910852..118912851hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382000
hg192000
hg182000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560408
Supporting Variants
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803343
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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