A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205974



Internal ID22354588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107215993..107242087hg38UCSC Ensembl
Outerchr6:107537197..107563291hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3826095
hg1926095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276631, nssv14276630
SamplesNA19239, NA19240
Known GenesPDSS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205974
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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