A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948991



Internal ID33347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55531545..55533223hg38UCSC Ensembl
chr4:56397712..56399390hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381679
hg191679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458099
Supporting Variants
Samples
Known GenesCLOCK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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