A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978657



Internal ID53144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173125066..173126292hg38UCSC Ensembl
chr5:172552069..172553295hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470055
Supporting Variants
Samples
Known GenesCREBRF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978657
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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