A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544403



Internal ID318551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144448080..144448124hg38UCSC Ensembl
chr5:143827643..143827687hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975484
Samples
Known GenesKCTD16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544403
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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