A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287979



Internal ID22386387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124898366..124898456hg38UCSC Ensembl
chr5:124234059..124234149hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7512n152
Supporting Variantsnssv14410649
SamplesNA19240
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)nsv3287979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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