A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287145



Internal ID22385546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70918655..70918841hg38UCSC Ensembl
chr10:72678412..72678598hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380210
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)nsv3287145
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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