A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001090



Internal ID68315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75406779..75417500hg38UCSC Ensembl
chr7:75036063..75046783hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810722
hg1910721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142851
Supporting Variants
Samples
Known GenesNSUN5P1, POM121C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001090
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008831


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