A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975211



Internal ID50860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154047712..154048473hg38UCSC Ensembl
chr5:153427272..153428033hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459047
Supporting Variants
Samples
Known GenesMFAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975211
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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