A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478247



Internal ID22536148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42719412..42720661hg38UCSC Ensembl
chr17:40871430..40872679hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879136
Supporting Variants
Samples
Known GenesEZH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478247
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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