A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280352



Internal ID22254383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:55731433..55754159hg38UCSC Ensembl
Outerchr8:56643992..56666718hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233184
Supporting Variants
SamplesNA19238
Known GenesTMEM68
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280352
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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