A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215601



Internal ID22361874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22381615..22402011hg38UCSC Ensembl
Outerchr7:22421234..22441630hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3820397
hg1920397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277251, nssv14277248, nssv14277247, nssv14277249, nssv14277253, nssv14277254, nssv14277250, nssv14277255, nssv14277252
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215601
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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