A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538287



Internal ID22407475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39348476..39348476hg38UCSC Ensembl
chr4:39350096..39350096hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452276
SamplesHG00733
Known GenesMIR1273H, RFC1
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)nsv3538287
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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