A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13686352



Internal ID21208209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29299961..29300030hg38UCSC Ensembl
chr22:29695951..29696020hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2804621
Supporting Variants
Samples
Known GenesEWSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13686352
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.71875


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