A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239884



Internal ID22374555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29116755..29134829hg38UCSC Ensembl
Outerchr21:30489076..30507150hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg383055
hg193055
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267628, nssv14267632, nssv14267630, nssv14267635, nssv14267634, nssv14267636, nssv14267633, nssv14267631, nssv14267629
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMAP3K7CL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239884
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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