A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285089



Internal ID22383462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4815436..4815656hg38UCSC Ensembl
chr10:4857628..4857848hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411456, nssv14436586
SamplesNA19240, HG00514
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)nsv3285089
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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