A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17493312



Internal ID22551241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56756439..56759151hg38UCSC Ensembl
chr3:56790467..56793179hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382713
hg192713
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836080
Supporting Variants
Samples
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17493312
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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