A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2947n223



Internal ID22805915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81124225..81236510hg38UCSC Ensembl
chr16:81157830..81270115hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38112286
hg19112286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6497152, nsv6515356, nsv6497678
Samples
Known GenesPKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv2947n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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