A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201265



Internal ID22350599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9768596..9792638hg38UCSC Ensembl
Outerchr2:9908725..9932767hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3824043
hg1924043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264430, nssv14264429
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201265
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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