A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229552



Internal ID22371365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111229462..111267532hg38UCSC Ensembl
Outerchr1:111772084..111810154hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381083
hg191083
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263015, nssv14263014, nssv14263013, nssv14263012
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesCHI3L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229552
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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