A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478771



Internal ID256317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92139965..92146490hg38UCSC Ensembl
chr7:91769279..91775804hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg386526
hg196526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002146
Samples
Known GenesLRRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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