A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212282



Internal ID22359581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102685963..102752503hg38UCSC Ensembl
Outerchr7:102326410..102392950hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3866541
hg1966541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278771, nssv14278769, nssv14278770
SamplesNA19239, HG00732, NA19240
Known GenesFAM185A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212282
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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