A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489283



Internal ID22547202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204560174..204561948hg38UCSC Ensembl
chr2:205424897..205426671hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832427
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489283
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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