A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210442



Internal ID22358343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3312684..3319651hg38UCSC Ensembl
Outerchr2:3316455..3323422hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264966, nssv14266544, nssv14264964, nssv14266543, nssv14264965
SamplesNA19238, HG00732, NA19240, HG00733, HG00513
Known GenesTSSC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210442
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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