A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265068



Internal ID22186321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168864851..168880507hg38UCSC Ensembl
Outerchr2:169721361..169737017hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3816939
hg1916939
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214483
Supporting Variants
SamplesHG00731
Known GenesNOSTRIN, SPC25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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