A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946186



Internal ID22721672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94288857..94288929hg38UCSC Ensembl
chr13:94941111..94941183hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373733
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946186
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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