A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204912



Internal ID22353690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71944097..71994216hg38UCSC Ensembl
Outerchr2:72171227..72221346hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3850120
hg1950120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264677
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204912
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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