A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874173



Internal ID22649124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550508..75586098hg38UCSC Ensembl
chr2:75777634..75813224hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835591
hg1935591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394315
Samples
Known GenesEVA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874173
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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