A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6019794



Internal ID21929137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88747319..88747649hg38UCSC Ensembl
chr5:88043136..88043466hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17551205
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6019794
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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