A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285383



Internal ID22383762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:74543280..74543340hg38UCSC Ensembl
chr6:75252996..75253056hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7975n152
Supporting Variantsnssv14412385
SamplesNA19240
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)nsv3285383
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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