A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5843812



Internal ID22618747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88824216..88829760hg38UCSC Ensembl
chr5:88120033..88125577hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg385545
hg195545
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17499523, nssv17500414
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5843812
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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