A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281048



Internal ID22194117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:90230818..90237972hg38UCSC Ensembl
Outerchr8:91243046..91250200hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38604
hg19604
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243604
Supporting Variants
SamplesHG00731
Known GenesLINC00534
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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