A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532753



Internal ID22402076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17653919..17653919hg38UCSC Ensembl
chr4:17655542..17655542hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452077, nssv14423280, nssv14397254
SamplesNA19240, HG00733, HG00514
Known GenesFAM184B
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)nsv3532753
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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