A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230278



Internal ID22371849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:24852335..24888677hg38UCSC Ensembl
Outerchr15:25097482..25133824hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3836343
hg1936343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258489, nssv14258490
SamplesHG00731, HG00732
Known GenesSNRPN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230278
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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