A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550617



Internal ID20923756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50576571..50577012hg38UCSC Ensembl
chr22:51015000..51015441hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074631
Samples
Known GenesCHKB-CPT1B, CPT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550617
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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