A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282297



Internal ID22254879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:7423828..7445282hg38UCSC Ensembl
Outerchr9:7423828..7445282hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237737
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282297
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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