A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216380



Internal ID22362390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51623077..51677687hg38UCSC Ensembl
Outerchr19:52126330..52180940hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3854611
hg1954611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4324n152
Supporting Variantsnssv14263504, nssv14263506, nssv14263505
SamplesHG00512, NA19238, HG00731
Known GenesSIGLEC14, SIGLEC5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216380
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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