A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229203



Internal ID22371124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1572204..1599505hg38UCSC Ensembl
Outerchr2:1575976..1603277hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4421n152
Supporting Variantsnssv14264941, nssv14264940, nssv14264942
SamplesHG00512, NA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229203
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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