A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482860



Internal ID22540766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31464694..31466120hg38UCSC Ensembl
chr22:31860680..31862106hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381427
hg191427
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882440
Supporting Variants
Samples
Known GenesEIF4ENIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482860
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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