A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462039



Internal ID239974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134201001..134201413hg38UCSC Ensembl
chr6:134522139..134522551hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969805
Samples
Known GenesSGK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462039
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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