A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934305



Internal ID22709629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65916491..65919669hg38UCSC Ensembl
chr17:63912609..63915787hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg383179
hg193179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377437
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934305
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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