A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212791



Internal ID22359939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:104816974..104848449hg38UCSC Ensembl
Outerchr7:104457421..104488896hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3831476
hg1931476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278092, nssv14278091, nssv14278093
SamplesNA19238, NA19239, NA19240
Known GenesLHFPL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212791
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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