A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560735



Internal ID16001458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129710094..130478603hg38UCSC Ensembl
Innerchr12:130194639..130963148hg19UCSC Ensembl
Innerchr12:128760592..129529101hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38768510
hg19768510
hg18768510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv804408
Samples
Known GenesFZD10, FZD10-AS1, LOC100190940, PIWIL1, RIMBP2, TMEM132D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560735
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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