A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221996



Internal ID22366208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157512523..157553647hg38UCSC Ensembl
Outerchr6:157933555..157974679hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386283
hg196283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277652, nssv14277654, nssv14277653, nssv14277650, nssv14277651, nssv14277649
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesMIR3692, ZDHHC14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221996
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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