A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212366



Internal ID22359636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103157261..103174727hg38UCSC Ensembl
Outerchr7:102797708..102815174hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3817467
hg1917467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277331, nssv14277333, nssv14277332
SamplesHG00512, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212366
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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