A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209448



Internal ID22357526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106076905..106085089hg38UCSC Ensembl
Outerchr2:106693361..106701545hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg388185
hg198185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264651, nssv14264655, nssv14264656, nssv14264653, nssv14264654, nssv14264652
SamplesNA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesC2orf40
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209448
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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