A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899353



Internal ID22674483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232326575..232440030hg38UCSC Ensembl
chr2:233191285..233304740hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38113456
hg19113456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405474
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899353
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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