A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3296367



Internal ID22388535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49856626..49856722hg38UCSC Ensembl
chr22:50250274..50250370hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458644, nssv14434549, nssv14410176
SamplesNA19240, HG00733, HG00514
Known GenesZBED4
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)nsv3296367
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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