A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16954712



Internal ID37137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124691366..124691491hg38UCSC Ensembl
chr4:125612521..125612646hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536499
Supporting Variants
Samples
Known GenesANKRD50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16954712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.024732


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