A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226283



Internal ID22369138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157266134..157321680hg38UCSC Ensembl
Outerchr6:157691301..157742712hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3834107
hg1934107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277636, nssv14277640, nssv14277637, nssv14277642, nssv14277641, nssv14277635, nssv14277638, nssv14277639, nssv14277634
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTMEM242
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226283
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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