A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424209



Internal ID203205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157030184..157030259hg38UCSC Ensembl
chr1:156999976..157000051hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890945
Samples
Known GenesARHGEF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424209
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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