A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222474



Internal ID22366540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:62722356..62732466hg38UCSC Ensembl
Outerchr2:62949491..62959601hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266136, nssv14266139, nssv14266134, nssv14266137, nssv14266135, nssv14266138
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesEHBP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222474
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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