A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561441



Internal ID334422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3794039..6839596hg38UCSC Ensembl
chr18:3794039..6839595hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383045558
hg193045557
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715953
Samples
Known GenesARHGAP28, C18orf42, C18orf64, DLGAP1, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, EPB41L3, L3MBTL4, LINC00526, LINC00667, LOC645355, MIR3976, MIR4317, MIR6718, TMEM200C, ZBTB14
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561441
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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