A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214194



Internal ID22360916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25682935..25701642hg38UCSC Ensembl
Outerchr15:25928082..25946789hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg3818708
hg1918708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258415, nssv14258416, nssv14258414, nssv14258417
SamplesNA19240, HG00733, HG00513, HG00514
Known GenesATP10A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214194
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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