A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16954786



Internal ID37178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128993574..129000327hg38UCSC Ensembl
chr4:129914729..129921482hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg386754
hg196754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465181
Supporting Variants
Samples
Known GenesSCLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16954786
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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