A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325337



Internal ID22234035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176929800..176931653hg38UCSC Ensembl
chr5:176356801..176358654hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381854
hg191854
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195507
Supporting Variants
SamplesHG00733
Known GenesUIMC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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