A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482997



Internal ID260440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40709900..40711674hg38UCSC Ensembl
chr8:40567419..40569193hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010739
Samples
Known GenesZMAT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482997
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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