A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512263



Internal ID15505002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32177641..32183280hg38UCSC Ensembl
Outerchr12:32330575..32336214hg19UCSC Ensembl
Outerchr12:32221842..32227481hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385640
hg195640
hg185640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624838
Samples1
Known GenesBICD1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512263
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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