A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196050



Internal ID22346132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40838049..40838787hg38UCSC Ensembl
chr5:40838151..40838889hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14319992
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196050
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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