A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900577



Internal ID1174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34005918..34008723hg38UCSC Ensembl
chr1:34471519..34474324hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382806
hg192806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421672
Supporting Variants
Samples
Known GenesCSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900577
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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