A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280908



Internal ID22379224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10487907..10487994hg38UCSC Ensembl
chr2:10628033..10628120hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407487
SamplesNA19240
Known Genes
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)nsv3280908
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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