A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949539



Internal ID22724988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150672264..150672264hg38UCSC Ensembl
chr3:150390051..150390051hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414896
Samples
Known GenesFAM194A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949539
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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