A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871382



Internal ID22646320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18582606..18596898hg38UCSC Ensembl
chr2:18763872..18778164hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3814293
hg1914293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409397
Samples
Known GenesNT5C1B, NT5C1B-RDH14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871382
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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