A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468342



Internal ID246140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22028790..22042566hg38UCSC Ensembl
chr7:22068408..22082184hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3813777
hg1913777
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993870
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468342
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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