A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233184



Internal ID22372685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:55731433..55754159hg38UCSC Ensembl
Outerchr8:56643992..56666718hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280351, nssv14280346, nssv14280350, nssv14280347, nssv14280348, nssv14280352, nssv14280349, nssv14280353, nssv14280354
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTMEM68
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233184
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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