A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224864



Internal ID22368172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:219900264..219904368hg38UCSC Ensembl
Outerchr1:220073606..220077710hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381894
hg191894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265354, nssv14265348, nssv14265352, nssv14265356, nssv14265350, nssv14265353, nssv14265351, nssv14265349, nssv14265355
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRNU5F-1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224864
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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