A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225729



Internal ID22368772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99543240..99554841hg38UCSC Ensembl
Outerchr7:99140863..99152464hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277941, nssv14277942, nssv14277944, nssv14277940, nssv14277943
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesFAM200A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225729
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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