A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280740



Internal ID22219889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137031735..137053186hg38UCSC Ensembl
Outerchr9:139926187..139947638hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248190
Supporting Variants
SamplesHG00733
Known GenesC9orf139, ENTPD2, FUT7, NPDC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280740
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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