A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288770



Internal ID22387186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163574162..163574249hg38UCSC Ensembl
chr5:163001168..163001255hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7593n152
Supporting Variantsnssv14436899
SamplesHG00514
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)nsv3288770
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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