A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560115



Internal ID16000838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108884971..108917078hg38UCSC Ensembl
Innerchr12:109278747..109310854hg19UCSC Ensembl
Innerchr12:107802876..107834983hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3832108
hg1932108
hg1832108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175888
Samples1780862021_A
Known GenesDAO, SVOP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560115
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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