A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974630



Internal ID50466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146054250..146054365hg38UCSC Ensembl
chr5:145433813..145433928hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463520
Supporting Variants
Samples
Known GenesSH3RF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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