A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253128



Internal ID22198261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65798555..65853926hg38UCSC Ensembl
Outerchr9:42779142..42834504hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230862
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253128
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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