A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892361



Internal ID169103
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 StatusS
Merged Variantsnsv5414448
Supporting Variants
Samples
Known GenesARHGAP30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892361
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003748


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