A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892792



Internal ID22667847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88760281..88989086hg38UCSC Ensembl
chr5:88056098..88284903hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38228806
hg19228806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428139
Samples
Known GenesMEF2C, MEF2C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892792
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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