A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892747



Internal ID169341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11710697..11711133hg38UCSC Ensembl
chr1:11770754..11771190hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425093
Supporting Variants
Samples
Known GenesDRAXIN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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