A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284264



Internal ID22382625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180113290..180113385hg38UCSC Ensembl
chr5:179540290..179540385hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412081
SamplesNA19240
Known GenesRASGEF1C
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)nsv3284264
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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