A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480211



Internal ID257720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36345472..36345578hg38UCSC Ensembl
chr7:36385081..36385187hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996161
Samples
Known GenesKIAA0895
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480211
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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