A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263095



Internal ID22145757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7441859..7452411hg38UCSC Ensembl
Outerchr19:7506745..7517297hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3818301
hg1918301
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244005
Supporting Variants
SamplesHG00514
Known GenesARHGEF18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263095
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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