A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274801



Internal ID22188480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:127702867..127757716hg38UCSC Ensembl
Outerchr6:128024012..128078861hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3854850
hg1954850
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194598
Supporting Variants
SamplesHG00731
Known GenesTHEMIS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274801
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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