A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392349



Internal ID22450219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135558727..135576600hg38UCSC Ensembl
chr2:136316297..136334170hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3817874
hg1917874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900832
Supporting Variants
Samples
Known GenesR3HDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392349
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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