A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17499573



Internal ID22557509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9388650..9391524hg38UCSC Ensembl
chr5:9388762..9391636hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382875
hg192875
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843826
Supporting Variants
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17499573
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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