A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554988



Internal ID20928077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25302901..25606200hg38UCSC Ensembl
chr22:25698868..26002167hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38303300
hg19303300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4663n223
Supporting Variantsnssv18204906
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554988
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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