A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483496



Internal ID22541403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39743706..39745980hg38UCSC Ensembl
chr22:40139711..40141985hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869172
Supporting Variants
Samples
Known GenesENTHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483496
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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