A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17129295



Internal ID21416345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116558440..116558760hg38UCSC Ensembl
chr5:115894136..115894456hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570807
Supporting Variants
SamplesHG00731
Known GenesSEMA6A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17129295
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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