A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240054



Internal ID22374592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142174862..142197413hg38UCSC Ensembl
Outerchr8:143256223..143278774hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382095
hg192095
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9410n152
Supporting Variantsnssv14279871, nssv14279869, nssv14279868, nssv14279867, nssv14279870
SamplesNA19238, HG00732, NA19240, HG00733, HG00514
Known GenesMIR4472-1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240054
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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