A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540875



Internal ID22410000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21424301..21424301hg38UCSC Ensembl
chr3:21465793..21465793hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423862
SamplesHG00514
Known GenesZNF385D
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)nsv3540875
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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