A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5843575



Internal ID22618510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88894629..88895628hg38UCSC Ensembl
chr5:88190446..88191445hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17499535
Samples
Known GenesMEF2C, MEF2C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5843575
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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