A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283616



Internal ID22200079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104828892..104852634hg38UCSC Ensembl
Outerchr9:107591173..107614915hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg382412
hg192412
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250063
Supporting Variants
SamplesHG00732
Known GenesABCA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283616
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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