A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283065



Internal ID22123299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:77451961..77456410hg38UCSC Ensembl
Outerchr9:80066877..80071326hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233655
Supporting Variants
SamplesHG00512
Known GenesGNA14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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