A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975754



Internal ID51236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151278303..151278368hg38UCSC Ensembl
chr5:150657864..150657929hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455496
Supporting Variants
Samples
Known GenesSLC36A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.034655


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