A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200795



Internal ID22350192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16624289..16624342hg38UCSC Ensembl
chr5:16624398..16624451hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7214n152
Supporting Variantsnssv14462727
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200795
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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