A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536124



Internal ID22405359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186547099..186547099hg38UCSC Ensembl
chr4:187468253..187468253hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462553
SamplesHG00733
Known GenesMTNR1A
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)nsv3536124
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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