A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207265



Internal ID22355687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36519904..36541814hg38UCSC Ensembl
Outerchr2:36747047..36768957hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3821911
hg1921911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264057
SamplesNA19238
Known GenesCRIM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207265
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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