A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6004766



Internal ID21914109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134220488..134220553hg38UCSC Ensembl
chr5:133556179..133556244hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17538595
Samples
Known GenesPPP2CA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6004766
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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