A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191608



Internal ID22342290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133888049..133888301hg38UCSC Ensembl
chr5:133223740..133223992hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14324998, nssv14324997, nssv14324999
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191608
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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