A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903420



Internal ID22678587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137116388..137126505hg38UCSC Ensembl
chr5:136452077..136462194hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810118
hg1910118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411331
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903420
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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