A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226811



Internal ID22369491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174740065..174758004hg38UCSC Ensembl
Outerchr5:174167068..174185007hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg385719
hg195719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277598, nssv14277594, nssv14277596, nssv14277597, nssv14277599, nssv14277595
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known GenesMIR4634
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226811
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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