A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406656



Internal ID22464526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36883440..37015843hg38UCSC Ensembl
chr2:37110583..37242986hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38132404
hg19132404
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867719
Supporting Variants
Samples
Known GenesHEATR5B, STRN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406656
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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