A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419157



Internal ID198301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157034217..157043675hg38UCSC Ensembl
chr1:157004009..157013467hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg389459
hg199459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890946
Samples
Known GenesARHGEF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419157
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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