A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281051



Internal ID22194111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:101678395..101704092hg38UCSC Ensembl
Outerchr8:102690623..102716320hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248018
Supporting Variants
SamplesHG00731
Known GenesNCALD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281051
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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