A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941137



Internal ID22716556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93988605..93993141hg38UCSC Ensembl
chr13:94640859..94645395hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg384537
hg194537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370025
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941137
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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