A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947115



Internal ID22722617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93271655..93273410hg38UCSC Ensembl
chr13:93923908..93925663hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381756
hg191756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372284
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947115
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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