A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279721



Internal ID22378025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71750650..71750705hg38UCSC Ensembl
chr5:71046477..71046532hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7376n152
Supporting Variantsnssv14411899
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)nsv3279721
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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