A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223253



Internal ID22367084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:132983618..132986925hg38UCSC Ensembl
Outerchr7:132668378..132671685hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg383308
hg193308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278131, nssv14278130, nssv14278129
SamplesNA19238, NA19239, HG00731
Known GenesCHCHD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223253
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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