A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4518n223



Internal ID22807486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13045301..13191400hg38UCSC Ensembl
chr21:14417622..14563721hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38146100
hg19146100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6536437, nsv6543918
Samples
Known GenesANKRD30BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4518n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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