A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283705



Internal ID22382057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40601550..40601610hg38UCSC Ensembl
chr8:40459069..40459129hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9145n152
Supporting Variantsnssv14462939
SamplesHG00733
Known GenesZMAT4
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)nsv3283705
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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