A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489347



Internal ID22547266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226839622..226844701hg38UCSC Ensembl
chr2:227704338..227709417hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385080
hg195080
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832757
Supporting Variants
Samples
Known GenesRHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489347
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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