A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211157



Internal ID22358810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9392946..9401020hg38UCSC Ensembl
Outerchr2:9533075..9541149hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266821, nssv14267416, nssv14266820, nssv14266822
SamplesNA19239, HG00731, HG00732, NA19240
Known GenesASAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211157
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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