A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425964



Internal ID22483834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9512781..9514371hg38UCSC Ensembl
chr5:9512893..9514483hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381591
hg191591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890908
Supporting Variants
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425964
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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