A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280773



Internal ID22230849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137659800..137672310hg38UCSC Ensembl
Outerchr9:140554252..140566762hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245265
Supporting Variants
SamplesHG00733
Known GenesEHMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280773
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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