A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893234



Internal ID22668293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143526104..143526425hg38UCSC Ensembl
chr2:144283673..144283994hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405084
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893234
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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