A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216565



Internal ID22362521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5694702..5720287hg38UCSC Ensembl
Outerchr4:5696429..5722014hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg382890
hg192890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272908, nssv14272905, nssv14272901, nssv14272900, nssv14272902, nssv14272903, nssv14272906, nssv14272904, nssv14272907
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEVC, EVC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216565
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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