A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281488



Internal ID22379814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138135185..138135240hg38UCSC Ensembl
chr4:139056339..139056394hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6865n152
Supporting Variantsnssv14435178, nssv14453404
SamplesHG00733, HG00514
Known GenesSLC7A11-AS1
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)nsv3281488
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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