A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269199



Internal ID22280387
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226248
Supporting Variants
SamplesNA19239
Known GenesTDRD5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269199
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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