A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487075



Internal ID264422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66613005..66620158hg38UCSC Ensembl
chr7:66077992..66085145hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg387154
hg197154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997216
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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