A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195328



Internal ID22345526
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275635, nssv14275633, nssv14275636, nssv14275634, nssv14275632
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known GenesLAMA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195328
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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