A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263915



Internal ID22134356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167025771..167061835hg38UCSC Ensembl
Outerchr1:166995008..167031072hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224444
Supporting Variants
SamplesHG00513
Known GenesGPA33
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263915
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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