A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280785



Internal ID22219899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137711730..137729894hg38UCSC Ensembl
Outerchr9:140606182..140624346hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg385556
hg195556
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230855
Supporting Variants
SamplesHG00733
Known GenesEHMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280785
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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