A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873105



Internal ID22648049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12723646..12723950hg38UCSC Ensembl
chr1:12783638..12783917hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38305
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357189
Samples
Known GenesAADACL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873105
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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