A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530313



Internal ID22399699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9940723..9940723hg38UCSC Ensembl
chr3:9982407..9982407hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395824
SamplesNA19240
Known GenesCRELD1
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)nsv3530313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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