A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281994



Internal ID22380324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212763549..212763617hg38UCSC Ensembl
chr2:213628273..213628341hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406529, nssv14433837
SamplesNA19240, HG00514
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)nsv3281994
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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