A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956247



Internal ID22731439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183364651..183364651hg38UCSC Ensembl
chr3:183082439..183082439hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427944
Samples
Known GenesMCF2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956247
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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