A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530856



Internal ID22400224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40896617..40896617hg38UCSC Ensembl
chr3:40938108..40938108hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423950, nssv14398139, nssv14450394
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)nsv3530856
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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