A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285946



Internal ID22384329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169765854..169765997hg38UCSC Ensembl
chr6:170165950..170166093hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8262n152
Supporting Variantsnssv14382144
SamplesNA19240
Known GenesERMARD
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)nsv3285946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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