A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218839



Internal ID22364059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6368032..6393808hg38UCSC Ensembl
Outerchr10:6409994..6435770hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3825777
hg1925777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277126, nssv14274943, nssv14274944, nssv14274940, nssv14274945, nssv14274946, nssv14274941, nssv14274942, nssv14274947
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218839
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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