A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206098



Internal ID22354691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218324846..218325025hg38UCSC Ensembl
chr2:219189569..219189748hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4992n152
Supporting Variantsnssv14433853, nssv14408377
SamplesNA19240, HG00514
Known GenesPNKD
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206098
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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