A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053983



Internal ID103830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21424377..21477842hg38UCSC Ensembl
chr12:21577311..21630776hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3853466
hg1953466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497533
Supporting Variants
Samples
Known GenesPYROXD1, RECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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