A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968866



Internal ID46569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88899692..88899721hg38UCSC Ensembl
chr5:88195509..88195538hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547480
Supporting Variants
Samples
Known GenesMEF2C, MEF2C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968866
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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