A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4324n152



Internal ID22820027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51622372..51677687hg38UCSC Ensembl
chr19:52125625..52180940hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3855316
hg1955316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216380, nsv3218638
SamplesHG00512, NA19238, NA19239, HG00731, HG00513
Known GenesSIGLEC14, SIGLEC5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4324n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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