A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964656



Internal ID22739591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25845696..25845696hg38UCSC Ensembl
chr4:25847318..25847318hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410067
Samples
Known GenesSEL1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964656
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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