A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481504



Internal ID258980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42360441..42364827hg38UCSC Ensembl
chr7:42400040..42404426hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg384387
hg194387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995230
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481504
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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