A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119313



Internal ID19285322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:68276784..68281384hg38UCSC Ensembl
Outerchr9:70891700..70896300hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959751
SamplesKWS1
Known GenesCBWD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119313
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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