A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280533



Internal ID22378846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10200390..10200514hg38UCSC Ensembl
chr2:10340516..10340640hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407482
SamplesNA19240
Known GenesC2orf48
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3280533
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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