A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484377



Internal ID22542285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122946746..122986165hg38UCSC Ensembl
chr3:122665593..122705012hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3839420
hg1939420
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833964
Supporting Variants
Samples
Known GenesSEMA5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484377
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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