A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552910



Internal ID326210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16576842..16576884hg38UCSC Ensembl
chr5:16576951..16576993hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962865
Samples
Known GenesFAM134B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552910
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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