A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277165



Internal ID22192502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:101833466..101838759hg38UCSC Ensembl
Outerchr6:102281341..102286634hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219559
Supporting Variants
SamplesHG00731
Known GenesGRIK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277165
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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