A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472636



Internal ID250341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129669472..130238698hg38UCSC Ensembl
chr6:129990617..130559843hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38569227
hg19569227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969393
Samples
Known GenesARHGAP18, L3MBTL3, SAMD3, TMEM244
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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