A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548211



Internal ID20921407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13052401..13370500hg38UCSC Ensembl
chr21:14424722..14742821hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38318100
hg19318100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4519n223
Supporting Variantsnssv18203023
Samples
Known GenesANKRD30BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548211
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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