A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201149



Internal ID22350496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79352143..79352486hg38UCSC Ensembl
chr5:78647966..78648309hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7400n152
Supporting Variantsnssv14411433
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201149
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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