A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222380



Internal ID22366478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38337762..38373352hg38UCSC Ensembl
Outerchr7:38377363..38412953hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3835591
hg1935591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8481n152
Supporting Variantsnssv14277783, nssv14277784
SamplesHG00732, HG00733
Known GenesTRG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222380
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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