A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949150



Internal ID22724603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42552179..42552179hg38UCSC Ensembl
chr3:42593671..42593671hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428712
Samples
Known GenesSEC22C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949150
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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