A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532666



Internal ID22401992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146728844..146728844hg38UCSC Ensembl
chr4:147649996..147649996hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452430, nssv14425425
SamplesHG00733, HG00514
Known GenesTTC29
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)nsv3532666
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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