A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318100



Internal ID22226527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:178005724..178006241hg38UCSC Ensembl
chr4:178926878..178927395hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525587
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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