A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559748



Internal ID16347157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90798358..90853425hg38UCSC Ensembl
Innerchr12:91192135..91247202hg19UCSC Ensembl
Innerchr12:89716266..89771333hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3855068
hg1955068
hg1855068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2783n54
Supporting Variantsnssv1175731
Samples1780862459_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559748
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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