A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118505



Internal ID18935990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113437295..113440395hg38UCSC Ensembl
Outerchr12:113875100..113878200hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959014
SamplesKWS1
Known GenesSDSL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118505
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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