A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472802



Internal ID250504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61664252..61664335hg38UCSC Ensembl
chr5:60960079..60960162hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968162
Samples
Known GenesC5orf64
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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