A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5915737



Internal ID22690955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125192377..125201978hg38UCSC Ensembl
chr9:127954656..127964257hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg389602
hg199602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444851
Samples
Known GenesRABEPK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5915737
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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