A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134863



Internal ID20701903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88900001..88900800hg38UCSC Ensembl
chr5:88195818..88196617hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397161
Supporting Variants
Samples
Known GenesMEF2C, MEF2C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134863
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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