A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535769



Internal ID311359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116135866..116135898hg38UCSC Ensembl
chr6:116457029..116457061hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987438
Samples
Known GenesNT5DC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535769
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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