A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560329



Internal ID16347738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116649462..116655432hg38UCSC Ensembl
Innerchr12:117087267..117093237hg19UCSC Ensembl
Innerchr12:115571650..115577620hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg385971
hg195971
hg185971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2897n54
Supporting Variantsnssv802886
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560329
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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