A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563269



Internal ID336206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88835353..88835404hg38UCSC Ensembl
chr5:88131170..88131221hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968862
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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