A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229802



Internal ID22371531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2291907..2298741hg38UCSC Ensembl
Outerchr2:2295679..2302513hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266248, nssv14266247, nssv14266246
SamplesHG00731, HG00513, HG00514
Known GenesMYT1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229802
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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