A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546095



Internal ID22415093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123572810..123572810hg38UCSC Ensembl
chr10:125332326..125332326hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442455, nssv14414301, nssv14372806
SamplesNA19240, HG00733, 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)nsv3546095
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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