A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204973



Internal ID20772013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29387561..29393967hg38UCSC Ensembl
chr22:29783550..29789956hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386407
hg196407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554062
Supporting Variants
Samples
Known GenesAP1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204973
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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