A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281446



Internal ID22325117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137833314..137857266hg38UCSC Ensembl
Outerchr9:140727766..140751718hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382521
hg192521
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249196
Supporting Variants
SamplesNA19240
Known GenesEHMT1, MIR602
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281446
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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