A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17499533



Internal ID22557468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88875114..88876340hg38UCSC Ensembl
chr5:88170931..88172157hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843272
Supporting Variants
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17499533
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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