A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560310



Internal ID16001033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116089120..116090497hg38UCSC Ensembl
Innerchr12:116526925..116528302hg19UCSC Ensembl
Innerchr12:115011308..115012685hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381378
hg191378
hg181378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2891n54
Supporting Variantsnssv802807
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560310
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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