A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287635



Internal ID22386040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87408461..87408592hg38UCSC Ensembl
chr6:88118179..88118310hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8002n152
Supporting Variantsnssv14412432
SamplesNA19240
Known GenesC6orf165
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)nsv3287635
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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