A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481315



Internal ID22539219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18582931..18596863hg38UCSC Ensembl
chr2:18764197..18778129hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3813933
hg1913933
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832298
Supporting Variants
Samples
Known GenesNT5C1B, NT5C1B-RDH14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481315
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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