A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244005



Internal ID22375738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7441859..7452411hg38UCSC Ensembl
Outerchr19:7506745..7517297hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3818301
hg1918301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263094, nssv14263095, nssv14263093, nssv14262568, nssv14263096, nssv14263097, nssv14263098, nssv14262569, nssv14262570
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGEF18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244005
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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