A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426664



Internal ID205592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174376422..174450221hg38UCSC Ensembl
chr1:174345560..174419359hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3873800
hg1973800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892554
Samples
Known GenesGPR52, RABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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