A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475003



Internal ID252651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40713186..40713240hg38UCSC Ensembl
chr7:40752785..40752839hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994774
Samples
Known GenesC7orf10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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