A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214985



Internal ID20782025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88833824..88839422hg38UCSC Ensembl
chr5:88129641..88135239hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg385599
hg195599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400274
Supporting Variants
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214985
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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