A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225385



Internal ID22368530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:14278313..14295827hg38UCSC Ensembl
Outerchr17:14181630..14199144hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3817515
hg1917515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3478n152
Supporting Variantsnssv14260524, nssv14260525, nssv14260528, nssv14260527, nssv14260526, nssv14260523, nssv14260529
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225385
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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