A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752325



Internal ID20528185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137160486..137160486hg38UCSC Ensembl
chr5:136496175..136496175hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260953
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752325
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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