A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229220



Internal ID22371133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74378921..74438779hg38UCSC Ensembl
Outerchr7:73793251..73853109hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3859859
hg1959859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278751, nssv14278749, nssv14278748, nssv14278750, nssv14278747
SamplesHG00512, NA19239, HG00732, NA19240, HG00733
Known GenesCLIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229220
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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