A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220755



Internal ID22365363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:107551069..107571538hg38UCSC Ensembl
Outerchr4:108472226..108492695hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274199, nssv14274192, nssv14274194, nssv14274197, nssv14274196, nssv14274193, nssv14274195, nssv14274198, nssv14274191
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)nsv3220755
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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