A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223393



Internal ID22367177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236707563..236722016hg38UCSC Ensembl
Outerchr1:236870863..236885316hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384616
hg194616
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv623n152
Supporting Variantsnssv14266561, nssv14266562, nssv14266563, nssv14265617, nssv14266565, nssv14265618, nssv14265619, nssv14265621
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesACTN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223393
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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