A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5880574



Internal ID22655544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69789648..69795266hg38UCSC Ensembl
chr2:70016780..70022398hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385619
hg195619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403991
Samples
Known GenesANXA4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5880574
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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