A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375665



Internal ID22601334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91965460..92014003hg38UCSC Ensembl
chr13:92617714..92666256hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3848544
hg1948543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930121
Supporting Variants
Samples
Known GenesGPC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375665
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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