A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511491



Internal ID15850916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81745993..81750556hg38UCSC Ensembl
Outerchr12:81736586..81753708hg38UCSC Ensembl
Innerchr12:82139772..82144335hg19UCSC Ensembl
Outerchr12:82130365..82147487hg19UCSC Ensembl
Innerchr12:80663903..80668466hg18UCSC Ensembl
Outerchr12:80654496..80671618hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3817123
hg1917123
hg1817123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626108
Samples1
Known GenesPPFIA2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511491
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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