A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197156



Internal ID22347065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115633683..115634126hg38UCSC Ensembl
chr5:114969380..114969823hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321760, nssv14321761, nssv14321759, nssv14321763, nssv14321762
SamplesHG00512, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197156
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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