A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190925



Internal ID22341712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110970435..110970500hg38UCSC Ensembl
chr5:110306134..110306199hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7481n152
Supporting Variantsnssv14411537
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)nsv3190925
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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