A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193625



Internal ID22344054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:50254522..50314495hg38UCSC Ensembl
Outerchr2:50481660..50541633hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3859974
hg1959974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264668
SamplesHG00513
Known GenesNRXN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193625
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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