A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975057



Internal ID50759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134628013..134629692hg38UCSC Ensembl
chr5:133963703..133965382hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381680
hg191680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462205
Supporting Variants
Samples
Known GenesSAR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006871


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