A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139743



Internal ID18932778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:197729476..197734376hg38UCSC Ensembl
Outerchr2:198594200..198599100hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978082
SamplesKWS2
Known GenesBOLL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139743
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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