A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282752



Internal ID22381089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2334737..2334819hg38UCSC Ensembl
chr4:2336464..2336546hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6394n152
Supporting Variantsnssv14409042
SamplesNA19240
Known GenesZFYVE28
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)nsv3282752
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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