A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214776



Internal ID22361324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138600814..138620494hg38UCSC Ensembl
Outerchr7:138285559..138305239hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3819681
hg1919681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278135, nssv14278133, nssv14278136, nssv14278134, nssv14278132
SamplesHG00512, HG00732, HG00733, HG00513, HG00514
Known GenesSVOPL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214776
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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