A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222777



Internal ID22366750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:98634270..98665281hg38UCSC Ensembl
Outerchr2:99250733..99281744hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265375, nssv14265376, nssv14265372, nssv14265373, nssv14265374
SamplesNA19238, NA19239, HG00732, NA19240, HG00733
Known GenesMGAT4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222777
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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