A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204881



Internal ID22353663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86914755..86914868hg38UCSC Ensembl
chr2:87141878..87141991hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4669n152
Supporting Variantsnssv14433727
SamplesHG00514
Known GenesRGPD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204881
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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