A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446121



Internal ID224450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107891618..108660859hg38UCSC Ensembl
chr2:108508074..109277315hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38769242
hg19769242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918705
Samples
Known GenesGCC2, LIMS1, RGPD4, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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