A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284004



Internal ID22382361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166221908..166221974hg38UCSC Ensembl
chr6:166635396..166635462hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8210n152
Supporting Variantsnssv14435762
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)nsv3284004
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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