A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275633



Internal ID22230300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:128957731..129008267hg38UCSC Ensembl
Outerchr6:129278876..129329412hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3850537
hg1950537
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195328
Supporting Variants
SamplesHG00733
Known GenesLAMA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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