A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110451



Internal ID18918923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:159921993..159924093hg38UCSC Ensembl
Outerchr5:159349000..159351100hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960102
SamplesKWS1
Known GenesADRA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110451
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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