A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2793590



Internal ID21238928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52002604..52002604hg38UCSC Ensembl
chr13:52576740..52576740hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13679869, nssv13696062
Samples
Known GenesATP7B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2793590
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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