A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265787



Internal ID22146160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244779313..244804492hg38UCSC Ensembl
Outerchr1:244942615..244967794hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220291
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265787
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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