A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225547



Internal ID22368646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15277979..15284194hg38UCSC Ensembl
Outerchr17:15181296..15187511hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386216
hg196216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260824, nssv14260826, nssv14260827, nssv14260825
SamplesHG00512, HG00731, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225547
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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