A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469900



Internal ID247675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117964752..117966833hg38UCSC Ensembl
chr6:118285915..118287996hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg382082
hg192082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988071
Samples
Known GenesSLC35F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469900
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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