A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282409



Internal ID22380744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:156759378..156759472hg38UCSC Ensembl
chr4:157680530..157680624hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435528, nssv14411318
SamplesNA19240, HG00514
Known Genes
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)nsv3282409
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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