A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904278



Internal ID22679455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233112930..233114179hg38UCSC Ensembl
chr2:233977640..233978889hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400727
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904278
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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