A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141218



Internal ID19274593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112621296..112627596hg38UCSC Ensembl
Outerchr12:113059100..113065400hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386301
hg196301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992723
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141218
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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