A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507957



Internal ID284661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91407917..91407981hg38UCSC Ensembl
chr13:92060171..92060235hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694399
Samples
Known GenesGPC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507957
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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