A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559658



Internal ID16347067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85129154..85209753hg38UCSC Ensembl
Innerchr12:85522932..85603531hg19UCSC Ensembl
Innerchr12:84047063..84127662hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3880600
hg1980600
hg1880600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2765n54
Supporting Variantsnssv799953, nssv799952
Samples
Known GenesLRRIQ1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559658
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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