A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275607



Internal ID22253729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:121750864..121763129hg38UCSC Ensembl
Outerchr6:122072010..122084275hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3812266
hg1912266
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209532
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275607
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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