A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283012



Internal ID22272292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42290857..42349954hg38UCSC Ensembl
Outerchr9:44621165..44676646hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382639
hg192639
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245399
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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