A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323498



Internal ID22192265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143568221..143568221hg38UCSC Ensembl
chr5:142947786..142947786hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564136
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323498
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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