A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13679869



Internal ID21201729
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 StatusS
Merged Variantsnsv2793590
Supporting Variants
Samples
Known GenesATP7B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13679869
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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