A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212801



Internal ID22359943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39479379..39482698hg38UCSC Ensembl
chr18:37059343..37062662hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg383320
hg193320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431913
SamplesHG00514
Known GenesLINC00669
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212801
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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