A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974721



Internal ID50523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149021884..149022028hg38UCSC Ensembl
chr5:148401447..148401591hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473127
Supporting Variants
Samples
Known GenesSH3TC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974721
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.539963


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