A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830113



Internal ID22605048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63419549..63444112hg38UCSC Ensembl
chr1:63885220..63909783hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3824564
hg1924564
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480152
Samples
Known GenesALG6, ITGB3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830113
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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