A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451051



Internal ID22508924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27934203..27954352hg38UCSC Ensembl
chr13:28508340..28528489hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3820150
hg1920150
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850864
Supporting Variants
Samples
Known GenesATP5EP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451051
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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