A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193745



Internal ID22344151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63859871..63865004hg38UCSC Ensembl
chr2:64087005..64092138hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385134
hg195134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4609n152
Supporting Variantsnssv14406402
SamplesNA19240
Known GenesUGP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193745
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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