A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286238



Internal ID22384626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1046467..1047015hg38UCSC Ensembl
chr10:1092407..1092955hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409587, nssv14463215
SamplesNA19240, HG00733
Known GenesIDI1
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)nsv3286238
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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