A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624852



Internal ID15848388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56940779..56985477hg38UCSC Ensembl
Outerchr12:57334563..57379261hg19UCSC Ensembl
Outerchr12:55620830..55665528hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3844699
hg1944699
hg1844699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512276
Supporting Variants
Samples1
Known GenesRDH16
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624852
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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