A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146094



Internal ID19195688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132527600..132527756hg38UCSC Ensembl
Outerchr12:133104186..133104342hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999294
SamplesKWB1
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146094
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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