A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13711088



Internal ID21232847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88747316..88747643hg38UCSC Ensembl
chr5:88043133..88043460hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2813239
Supporting Variants
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13711088
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.53125


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