A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199387



Internal ID22348975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:79995389..80020444hg38UCSC Ensembl
Outerchr3:80044539..80069594hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3825056
hg1925056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271009, nssv14271008, nssv14271010, nssv14271011, nssv14271007
SamplesNA19238, NA19239, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199387
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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