A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543835



Internal ID22412884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11682673..11682673hg38UCSC Ensembl
chr10:11724672..11724672hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441496, nssv14414920
SamplesHG00733, 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)nsv3543835
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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