A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286375



Internal ID22384765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77269668..77269724hg38UCSC Ensembl
chr14:77736011..77736067hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2677n152
Supporting Variantsnssv14404480
SamplesNA19240
Known GenesNGB
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)nsv3286375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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