A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201679



Internal ID22350944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1077514..1148378hg38UCSC Ensembl
Outerchr2:1073200..1144064hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3870865
hg1970865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264828, nssv14264827, nssv14264825, nssv14264826, nssv14264830, nssv14264829
SamplesNA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesSNTG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201679
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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