A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511506



Internal ID15504245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178735..32182693hg38UCSC Ensembl
Outerchr12:32172076..32184253hg38UCSC Ensembl
Innerchr12:32331669..32335627hg19UCSC Ensembl
Outerchr12:32325010..32337187hg19UCSC Ensembl
Innerchr12:32222936..32226894hg18UCSC Ensembl
Outerchr12:32216277..32228454hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3812178
hg1912178
hg1812178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626125
Samples1
Known GenesBICD1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511506
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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