A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17551205



Internal ID21875560
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 StatusS
Merged Variantsnsv6019794
Supporting Variants
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17551205
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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