A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16958515



Internal ID39652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140048541..140049726hg38UCSC Ensembl
chr4:140969695..140970880hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470935
Supporting Variants
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16958515
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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