A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535059



Internal ID310773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107723537..107723537hg38UCSC Ensembl
chr1:108266159..108266159hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381869
hg191869
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908790
Samples
Known GenesVAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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