A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281090



Internal ID22379409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31849859..31849967hg38UCSC Ensembl
chr5:31849965..31850073hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7274n152
Supporting Variantsnssv14453809, nssv14434397, nssv14410868
SamplesNA19240, HG00733, HG00514
Known GenesPDZD2
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)nsv3281090
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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