A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226248



Internal ID22369114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179595093..179607026hg38UCSC Ensembl
Outerchr1:179564228..179576161hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385795
hg195795
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269200, nssv14269199, nssv14269198
SamplesNA19239, HG00731, NA19240
Known GenesTDRD5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226248
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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