A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900542



Internal ID1152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33371414..33371546hg38UCSC Ensembl
chr1:33837015..33837147hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416026
Supporting Variants
Samples
Known GenesPHC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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