A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527416



Internal ID303518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3938214..3942153hg38UCSC Ensembl
chr19:3938212..3942151hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383940
hg193940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720629
Samples
Known GenesNMRK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527416
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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