A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138600



Internal ID337784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103560126..103636335hg38UCSC Ensembl
chr1:104102748..104178957hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3876210
hg1976210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907625
Samples
Known GenesACTG1P4, AMY2A, AMY2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer