A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906704



Internal ID22681906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172612012..172681672hg38UCSC Ensembl
chr3:172329802..172399462hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3869661
hg1969661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417721
Samples
Known GenesNCEH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906704
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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