A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215167



Internal ID22361588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240623625..240630539hg38UCSC Ensembl
Outerchr2:241563042..241569956hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381632
hg191632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266730, nssv14266728, nssv14266729
SamplesNA19238, NA19240, HG00514
Known GenesGPR35
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215167
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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