A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541553



Internal ID316140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17593587..17593637hg38UCSC Ensembl
chr1:17920082..17920132hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900021
Samples
Known GenesARHGEF10L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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