A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414448



Internal ID193730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161061405..161065264hg38UCSC Ensembl
chr1:161031195..161035054hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383860
hg193860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892361
Samples
Known GenesARHGAP30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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