A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966617



Internal ID22741552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154452793..154452793hg38UCSC Ensembl
chr5:153832353..153832353hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419614
Samples
Known GenesSAP30L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966617
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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