A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194443



Internal ID22344755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1314801..1366057hg38UCSC Ensembl
Outerchr2:1318573..1369829hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3851257
hg1951257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264426, nssv14264427
SamplesNA19239, HG00731
Known GenesSNTG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194443
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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