A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281861



Internal ID22257249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137813742..137822537hg38UCSC Ensembl
Outerchr9:140708194..140716989hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388796
hg198796
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218058
Supporting Variants
SamplesNA19238
Known GenesEHMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281861
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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