A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361449



Internal ID22587118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209761662..209762729hg38UCSC Ensembl
chr1:209935007..209936074hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878409
Supporting Variants
Samples
Known GenesTRAF3IP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361449
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009


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