A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229597



Internal ID22371396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132198556..132282358hg38UCSC Ensembl
Outerchr2:132956129..133039931hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg382507
hg192507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265977, nssv14265976
SamplesNA19239, NA19240
Known GenesANKRD30BL, MIR663B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229597
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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