A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211826



Internal ID22359260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158041545..158071545hg38UCSC Ensembl
Outerchr7:157834237..157864237hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3830001
hg1930001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278209
SamplesNA19238
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211826
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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