A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560313



Internal ID16001036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116277154..116277895hg38UCSC Ensembl
Innerchr12:116714959..116715700hg19UCSC Ensembl
Innerchr12:115199342..115200083hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38742
hg19742
hg18742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802810, nssv802811
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560313
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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