A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525133



Internal ID301307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37381915..37388522hg38UCSC Ensembl
chr17:35738853..35745457hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386608
hg196605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712902
Samples
Known GenesACACA, C17orf78
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525133
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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