A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461931



Internal ID22519816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56837910..56839156hg38UCSC Ensembl
chr14:57304628..57305874hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850894
Supporting Variants
Samples
Known GenesOTX2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461931
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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