A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537713



Internal ID312948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44253092..44258265hg38UCSC Ensembl
chr22:44648972..44654145hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385174
hg195174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729392
Samples
Known GenesKIAA1644
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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