A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265768



Internal ID22258027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243978083..243983208hg38UCSC Ensembl
Outerchr1:244141385..244146510hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214580
Supporting Variants
SamplesNA19238
Known GenesLOC339529
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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