A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564136



Internal ID22432870
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323498, nssv14323499
SamplesHG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564136
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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